P53_HUMAN
ID P53_HUMAN Reviewed; 393 AA.
AC P04637; Q15086; Q15087; Q15088; Q16535; Q16807; Q16808; Q16809; Q16810;
AC Q16811; Q16848; Q2XN98; Q3LRW1; Q3LRW2; Q3LRW3; Q3LRW4; Q3LRW5; Q86UG1;
AC Q8J016; Q99659; Q9BTM4; Q9HAQ8; Q9NP68; Q9NPJ2; Q9NZD0; Q9UBI2; Q9UQ61;
DT 13-AUG-1987, integrated into UniProtKB/Swiss-Prot.
DT 24-NOV-2009, sequence version 4.
DT 03-AUG-2022, entry version 296.
DE RecName: Full=Cellular tumor antigen p53;
DE AltName: Full=Antigen NY-CO-13;
DE AltName: Full=Phosphoprotein p53;
DE AltName: Full=Tumor suppressor p53;
GN Name=TP53; Synonyms=P53;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=4006916; DOI=10.1002/j.1460-2075.1985.tb03768.x;
RA Zakut-Houri R., Bienz-Tadmor B., Givol D., Oren M.;
RT "Human p53 cellular tumor antigen: cDNA sequence and expression in COS
RT cells.";
RL EMBO J. 4:1251-1255(1985).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), AND VARIANT GLY-76.
RX PubMed=2946935; DOI=10.1128/mcb.6.5.1379-1385.1986;
RA Lamb P., Crawford L.;
RT "Characterization of the human p53 gene.";
RL Mol. Cell. Biol. 6:1379-1385(1986).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=3894933; DOI=10.1128/mcb.5.7.1601-1610.1985;
RA Harlow E., Williamson N.M., Ralston R., Helfman D.M., Adams T.E.;
RT "Molecular cloning and in vitro expression of a cDNA clone for human
RT cellular tumor antigen p53.";
RL Mol. Cell. Biol. 5:1601-1610(1985).
RN [4]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RX PubMed=3025664; DOI=10.1128/mcb.6.12.4650-4656.1986;
RA Harris N., Brill E., Shohat O., Prokocimer M., Wolf D., Arai N., Rotter V.;
RT "Molecular basis for heterogeneity of the human p53 protein.";
RL Mol. Cell. Biol. 6:4650-4656(1986).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=2905688; DOI=10.1016/0378-1119(88)90196-5;
RA Buchman V.L., Chumakov P.M., Ninkina N.N., Samarina O.P., Georgiev G.P.;
RT "A variation in the structure of the protein-coding region of the human p53
RT gene.";
RL Gene 70:245-252(1988).
RN [6]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS SPORADIC CANCERS.
RX PubMed=1915267; DOI=10.1002/j.1460-2075.1991.tb07837.x;
RA Farrell P.J., Allan G., Shanahan F., Vousden K.H., Crook T.;
RT "p53 is frequently mutated in Burkitt's lymphoma cell lines.";
RL EMBO J. 10:2879-2887(1991).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LYS-286.
RX PubMed=8316628; DOI=10.2307/3578196;
RA Allalunis-Turner M.J., Barron G.M., Day R.S. III, Dobler K.D.,
RA Mirzayans R.;
RT "Isolation of two cell lines from a human malignant glioma specimen
RT differing in sensitivity to radiation and chemotherapeutic drugs.";
RL Radiat. Res. 134:349-354(1993).
RN [8]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND INTERACTION WITH WWOX.
RX PubMed=11058590; DOI=10.1074/jbc.m007140200;
RA Chang N.-S., Pratt N., Heath J., Schultz L., Sleve D., Carey G.B.,
RA Zevotek N.;
RT "Hyaluronidase induction of a WW domain-containing oxidoreductase that
RT enhances tumor necrosis factor cytotoxicity.";
RL J. Biol. Chem. 276:3361-3370(2001).
RN [9]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 7; 8 AND 9), SUBCELLULAR
RP LOCATION, TISSUE SPECIFICITY, ALTERNATIVE PROMOTER USAGE, ALTERNATIVE
RP SPLICING, INDUCTION, AND VARIANT ARG-72.
RC TISSUE=Colon;
RX PubMed=16131611; DOI=10.1101/gad.1339905;
RA Bourdon J.C., Fernandes K., Murray-Zmijewski F., Liu G., Diot A.,
RA Xirodimas D.P., Saville M.K., Lane D.P.;
RT "p53 isoforms can regulate p53 transcriptional activity.";
RL Genes Dev. 19:2122-2137(2005).
RN [10]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Chumakov P.M., Almazov V.P., Jenkins J.R.;
RL Submitted (JUN-1991) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RA Rozemuller E.H., Tilanus M.G.J.;
RT "P53 genomic sequence. Corrections and polymorphism.";
RL Submitted (MAR-1997) to the EMBL/GenBank/DDBJ databases.
RN [12]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-47; LYS-339 AND
RP ALA-366.
RG NIEHS SNPs program;
RL Submitted (NOV-2004) to the EMBL/GenBank/DDBJ databases.
RN [13]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LYS-286.
RX PubMed=11023613; DOI=10.1667/0033-7587(2000)154[0473:htftmg]2.0.co;2;
RA Anderson C.W., Allalunis-Turner M.J.;
RT "Human TP53 from the malignant glioma-derived cell lines M059J and M059K
RT has a cancer-associated mutation in exon 8.";
RL Radiat. Res. 154:473-476(2000).
RN [14]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANTS HIS-273 AND SER-309.
RA Azuma K., Shichijo S., Itoh K.;
RT "Identification of a tumor-rejection antigen recognized by HLA-B46
RT restricted CTL.";
RL Submitted (MAR-2002) to the EMBL/GenBank/DDBJ databases.
RN [15]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ARG-72.
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [16]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S.,
RA Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E.,
RA Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K.,
RA LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J.,
RA Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A.,
RA Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K.,
RA Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in the
RT human lineage.";
RL Nature 440:1045-1049(2006).
RN [17]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ARG-72.
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA Hunkapiller M.W., Myers E.W., Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [18]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT ALA-278.
RC TISSUE=Kidney;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [19]
RP NUCLEOTIDE SEQUENCE [MRNA] OF 1-379 (ISOFORM 1), AND VARIANTS ASN-139 AND
RP PRO-155.
RC TISSUE=Lung carcinoma;
RX PubMed=14660794; DOI=10.1073/pnas.2536558100;
RA Kanashiro C.A., Schally A.V., Groot K., Armatis P., Bernardino A.L.,
RA Varga J.L.;
RT "Inhibition of mutant p53 expression and growth of DMS-153 small cell lung
RT carcinoma by antagonists of growth hormone-releasing hormone and
RT bombesin.";
RL Proc. Natl. Acad. Sci. U.S.A. 100:15836-15841(2003).
RN [20]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 101-393.
RX PubMed=6396087; DOI=10.1002/j.1460-2075.1984.tb02287.x;
RA Matlashewski G., Lamb P., Pim D., Peacock J., Crawford L., Benchimol S.;
RT "Isolation and characterization of a human p53 cDNA clone: expression of
RT the human p53 gene.";
RL EMBO J. 3:3257-3262(1984).
RN [21]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 126-185.
RA Pan X.L., Zhang A.H.;
RT "Study on the effect of tumor suppressor gene p53 in arsenism patients.";
RL Submitted (SEP-2003) to the EMBL/GenBank/DDBJ databases.
RN [22]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 261-298, AND VARIANT GLN-282.
RC TISSUE=Blood;
RA Nimri L.F., Owais W., Momani E.;
RT "Detection of P53 gene mutations and serum p53 antibodies associated with
RT cigarette smoking.";
RL Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
RN [23]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 262-306, AND VARIANT VAL-262.
RC TISSUE=Ovarian adenocarcinoma;
RA Filippini G., Soldati G.;
RL Submitted (JUL-1996) to the EMBL/GenBank/DDBJ databases.
RN [24]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 225-260.
RC TISSUE=Glial cell, and Glial tumor;
RA Thompson-Hehir J., Davies M.P.A., Green J.A., Halliwell N., Joyce K.A.,
RA Salisbury J., Sibson D.R., Vergote I., Walker C.;
RT "Mutation detection utilizing a novel PCR approach for amplification of the
RT p53 gene from microdissected tissue: application to archival tumor
RT samples.";
RL Submitted (DEC-1999) to the EMBL/GenBank/DDBJ databases.
RN [25]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 225-260.
RA Yavuz A.S., Farner N.L., Yavuz S., Grammer A.C., Girschick H.J.,
RA Lipsky P.E.;
RT "Bcl6 and P53 gene mutations in tonsillar B cells.";
RL Submitted (MAR-2000) to the EMBL/GenBank/DDBJ databases.
RN [26]
RP PROTEIN SEQUENCE OF 320-337, SUBUNIT, INTERACTION WITH PRMT5, SUBCELLULAR
RP LOCATION, METHYLATION AT ARG-333; ARG-335 AND ARG-337 BY PRMT5,
RP IDENTIFICATION BY MASS SPECTROMETRY, AND MUTAGENESIS OF 333-ARG--ARG-337.
RX PubMed=19011621; DOI=10.1038/ncb1802;
RA Jansson M., Durant S.T., Cho E.C., Sheahan S., Edelmann M., Kessler B.,
RA La Thangue N.B.;
RT "Arginine methylation regulates the p53 response.";
RL Nat. Cell Biol. 10:1431-1439(2008).
RN [27]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 332-366.
RA Pinto E.M., Mendonca B.B., Latronico A.C.;
RT "Allelic variant in intron 9 of TP53 gene.";
RL Submitted (APR-2003) to the EMBL/GenBank/DDBJ databases.
RN [28]
RP INTERACTION WITH HUMAN PAPILLOMAVIRUS TYPE 6 AND 11 PROTEIN E6 (MICROBIAL
RP INFECTION).
RX PubMed=2175676; DOI=10.1016/0092-8674(90)90409-8;
RA Scheffner M., Werness B.A., Huibregtse J.M., Levine A.J., Howley P.M.;
RT "The E6 oncoprotein encoded by human papillomavirus types 16 and 18
RT promotes the degradation of p53.";
RL Cell 63:1129-1136(1990).
RN [29]
RP NUCLEAR LOCALIZATION SIGNAL, AND MUTAGENESIS OF LYS-319; LYS-320 AND
RP LYS-321.
RX PubMed=2156209;
RA Addison C., Jenkins J.R., Sturzbecher H.-W.;
RT "The p53 nuclear localisation signal is structurally linked to a p34cdc2
RT kinase motif.";
RL Oncogene 5:423-426(1990).
RN [30]
RP PHOSPHORYLATION BY P60/CDC2 AND CYCLIN B/CDC2.
RX PubMed=2141171; DOI=10.1073/pnas.87.12.4766;
RA Bischoff J.R., Friedman P.N., Marshak D.R., Prives C., Beach D.;
RT "Human p53 is phosphorylated by p60-cdc2 and cyclin B-cdc2.";
RL Proc. Natl. Acad. Sci. U.S.A. 87:4766-4770(1990).
RN [31]
RP PHOSPHORYLATION.
RX PubMed=1705009; DOI=10.1128/mcb.11.3.1598-1606.1991;
RA Samad A., Carroll R.B.;
RT "The tumor suppressor p53 is bound to RNA by a stable covalent linkage.";
RL Mol. Cell. Biol. 11:1598-1606(1991).
RN [32]
RP DEPHOSPHORYLATION BY PP2A.
RX PubMed=1848668; DOI=10.1128/mcb.11.4.1996-2003.1991;
RA Scheidtmann K.H., Mumby M.C., Rundell K., Walter G.;
RT "Dephosphorylation of simian virus 40 large-T antigen and p53 protein by
RT protein phosphatase 2A: inhibition by small-t antigen.";
RL Mol. Cell. Biol. 11:1996-2003(1991).
RN [33]
RP ALTERNATIVE SPLICING.
RX PubMed=8632903;
RA Flaman J.-M., Waridel F., Estreicher A., Vannier A., Limacher J.-M.,
RA Gilbert D., Iggo R., Frebourg T.;
RT "The human tumour suppressor gene p53 is alternatively spliced in normal
RT cells.";
RL Oncogene 12:813-818(1996).
RN [34]
RP GLYCOSYLATION.
RX PubMed=8632915;
RA Shaw P., Freeman J., Bovey R., Iggo R.;
RT "Regulation of specific DNA binding by p53: evidence for a role for O-
RT glycosylation and charged residues at the carboxy-terminus.";
RL Oncogene 12:921-930(1996).
RN [35]
RP PHOSPHORYLATION AT SER-33.
RX PubMed=9372954; DOI=10.1128/mcb.17.12.7220;
RA Ko L.J., Shieh S.-Y., Chen X., Jayaraman L., Tamai K., Taya Y., Prives C.,
RA Pan Z.-Q.;
RT "p53 is phosphorylated by CDK7-cyclin H in a p36MAT1-dependent manner.";
RL Mol. Cell. Biol. 17:7220-7229(1997).
RN [36]
RP FUNCTION, AND IDENTIFICATION IN COMPLEX WITH CAK.
RX PubMed=9840937; DOI=10.1038/sj.onc.1202504;
RA Schneider E., Montenarh M., Wagner P.;
RT "Regulation of CAK kinase activity by p53.";
RL Oncogene 17:2733-2741(1998).
RN [37]
RP SUMOYLATION AT LYS-386, AND MUTAGENESIS OF LYS-386.
RA Gostissa M., Hengstermann A., Fogal V., Sandy P., Schwarz S.E.,
RA Scheffner M., Del Sal G.;
RT "Activation of p53 by conjugation to the ubiquitin-like protein SUMO-1.";
RL EMBO J. 18:6462-6471(1999).
RN [38]
RP PHOSPHORYLATION AT THR-18 BY CSNK1D/CK1.
RX PubMed=10606744; DOI=10.1016/s0014-5793(99)01647-6;
RA Dumaz N., Milne D.M., Meek D.W.;
RT "Protein kinase CK1 is a p53-threonine 18 kinase which requires prior
RT phosphorylation of serine 15.";
RL FEBS Lett. 463:312-316(1999).
RN [39]
RP BIPARTITE NUCLEAR LOCALIZATION SIGNAL, AND CHARACTERIZATION OF VARIANT
RP ASN-305.
RX PubMed=10551826; DOI=10.1074/jbc.274.46.32699;
RA Liang S.H., Clarke M.F.;
RT "A bipartite nuclear localization signal is required for p53 nuclear import
RT regulated by a carboxyl-terminal domain.";
RL J. Biol. Chem. 274:32699-32703(1999).
RN [40]
RP PHOSPHORYLATION AT SER-15 AND SER-20, INDUCTION BY DNA DAMAGE,
RP CHARACTERIZATION OF LFS VARIANT HIS-273, MUTAGENESIS OF THR-18; SER-20 AND
RP 22-LEU-TRP-23, SUBCELLULAR LOCATION, AND INTERACTION WITH PML AND MDM2.
RX PubMed=10570149; DOI=10.1073/pnas.96.24.13777;
RA Chehab N.H., Malikzay A., Stavridi E.S., Halazonetis T.D.;
RT "Phosphorylation of Ser-20 mediates stabilization of human p53 in response
RT to DNA damage.";
RL Proc. Natl. Acad. Sci. U.S.A. 96:13777-13782(1999).
RN [41]
RP UBIQUITINATION.
RX PubMed=10722742; DOI=10.1074/jbc.275.12.8945;
RA Fang S., Jensen J.P., Ludwig R.L., Vousden K.H., Weissman A.M.;
RT "Mdm2 is a RING finger-dependent ubiquitin protein ligase for itself and
RT p53.";
RL J. Biol. Chem. 275:8945-8951(2000).
RN [42]
RP ACETYLATION AT LYS-373 AND LYS-382.
RX PubMed=10656795; DOI=10.1006/jmbi.1999.3415;
RA Abraham J., Kelly J., Thibault P., Benchimol S.;
RT "Post-translational modification of p53 protein in response to ionizing
RT radiation analyzed by mass spectrometry.";
RL J. Mol. Biol. 295:853-864(2000).
RN [43]
RP PHOSPHORYLATION AT SER-315 AND SER-392 BY CDK2, AND MUTAGENESIS OF LYS-382;
RP LEU-383 AND PHE-385.
RX PubMed=10884347; DOI=10.1006/jmbi.2000.3830;
RA Luciani M.G., Hutchins J.R.A., Zheleva D., Hupp T.R.;
RT "The C-terminal regulatory domain of p53 contains a functional docking site
RT for cyclin A.";
RL J. Mol. Biol. 300:503-518(2000).
RN [44]
RP FUNCTION, INTERACTION WITH PML, AND SUBCELLULAR LOCATION.
RX PubMed=11025664; DOI=10.1038/35036365;
RA Guo A., Salomoni P., Luo J., Shih A., Zhong S., Gu W., Pandolfi P.P.;
RT "The function of PML in p53-dependent apoptosis.";
RL Nat. Cell Biol. 2:730-736(2000).
RN [45]
RP INTERACTION WITH E4F1.
RX PubMed=10644996; DOI=10.1038/sj.onc.1203250;
RA Sandy P., Gostissa M., Fogal V., Cecco L.D., Szalay K., Rooney R.J.,
RA Schneider C., Del Sal G.;
RT "p53 is involved in the p120E4F-mediated growth arrest.";
RL Oncogene 19:188-199(2000).
RN [46]
RP PHOSPHORYLATION AT THR-18.
RX PubMed=10951572; DOI=10.1038/sj.onc.1203709;
RA Lopez-Borges S., Lazo P.A.;
RT "The human vaccinia-related kinase 1 (VRK1) phosphorylates threonine-18
RT within the mdm-2 binding site of the p53 tumour suppressor protein.";
RL Oncogene 19:3656-3664(2000).
RN [47]
RP REVIEW ON ZINC-BINDING PROPERTIES.
RX PubMed=11554448; DOI=10.1089/15230860152542961;
RA Hainaut P., Mann K.;
RT "Zinc binding and redox control of p53 structure and function.";
RL Antioxid. Redox Signal. 3:611-623(2001).
RN [48]
RP PHOSPHORYLATION AT SER-15.
RX PubMed=11554766; DOI=10.1006/bbrc.2001.5627;
RA Imamura K., Ogura T., Kishimoto A., Kaminishi M., Esumi H.;
RT "Cell cycle regulation via p53 phosphorylation by a 5'-AMP activated
RT protein kinase activator, 5-aminoimidazole-4-carboxamide-1-beta-D-
RT ribofuranoside, in a human hepatocellular carcinoma cell line.";
RL Biochem. Biophys. Res. Commun. 287:562-567(2001).
RN [49]
RP DEACETYLATION AT LYS-382 BY SIRT1.
RX PubMed=11672523; DOI=10.1016/s0092-8674(01)00527-x;
RA Vaziri H., Dessain S.K., Ng Eaton E., Imai S., Frye R.A., Pandita T.K.,
RA Guarente L., Weinberg R.A.;
RT "hSIR2(SIRT1) functions as an NAD-dependent p53 deacetylase.";
RL Cell 107:149-159(2001).
RN [50]
RP MINIMAL REPRESSION DOMAIN.
RX PubMed=11007800; DOI=10.1074/jbc.m008231200;
RA Hong T.M., Chen J.J., Peck K., Yang P.C., Wu C.W.;
RT "p53 amino acids 339-346 represent the minimal p53 repression domain.";
RL J. Biol. Chem. 276:1510-1515(2001).
RN [51]
RP PHOSPHORYLATION AT SER-20 BY PLK3.
RX PubMed=11447225; DOI=10.1074/jbc.m104157200;
RA Xie S., Wang Q., Wu H., Cogswell J., Lu L., Jhanwar-Uniyal M., Dai W.;
RT "Reactive oxygen species-induced phosphorylation of p53 on serine 20 is
RT mediated in part by polo-like kinase-3.";
RL J. Biol. Chem. 276:36194-36199(2001).
RN [52]
RP PHOSPHORYLATION AT SER-20 BY PLK3.
RX PubMed=11551930; DOI=10.1074/jbc.m106050200;
RA Xie S., Wu H., Wang Q., Cogswell J.P., Husain I., Conn C., Stambrook P.,
RA Jhanwar-Uniyal M., Dai W.;
RT "Plk3 functionally links DNA damage to cell cycle arrest and apoptosis at
RT least in part via the p53 pathway.";
RL J. Biol. Chem. 276:43305-43312(2001).
RN [53]
RP SUMOYLATION AT LYS-386, SUBCELLULAR LOCATION, AND MUTAGENESIS OF PHE-385;
RP LYS-386; THR-387 AND GLU-388.
RX PubMed=11124955; DOI=10.1074/jbc.m009476200;
RA Rodriguez M.S., Dargemont C., Hay R.T.;
RT "SUMO-1 conjugation in vivo requires both a consensus modification motif
RT and nuclear targeting.";
RL J. Biol. Chem. 276:12654-12659(2001).
RN [54]
RP PHOSPHORYLATION BY PRPK.
RX PubMed=11546806; DOI=10.1074/jbc.m105669200;
RA Abe Y., Matsumoto S., Wei S., Nezu K., Miyoshi A., Kito K., Ueda N.,
RA Shigemoto K., Hitsumoto Y., Nikawa J., Enomoto Y.;
RT "Cloning and characterization of a p53-related protein kinase expressed in
RT interleukin-2-activated cytotoxic T-cells, epithelial tumor cell lines, and
RT the testes.";
RL J. Biol. Chem. 276:44003-44011(2001).
RN [55]
RP PHOSPHORYLATION AT SER-392.
RX PubMed=11239457; DOI=10.1016/s1097-2765(01)00176-9;
RA Keller D.M., Zeng X., Wang Y., Zhang Q.H., Kapoor M., Shu H., Goodman R.,
RA Lozano G., Zhao Y., Lu H.;
RT "A DNA damage-induced p53 serine 392 kinase complex contains CK2, hSpt16,
RT and SSRP1.";
RL Mol. Cell 7:283-292(2001).
RN [56]
RP INTERACTION WITH USP7.
RX PubMed=12507430; DOI=10.1016/s0092-8674(02)01199-6;
RA Hu M., Li P., Li M., Li W., Yao T., Wu J.-W., Gu W., Cohen R.E., Shi Y.;
RT "Crystal structure of a UBP-family deubiquitinating enzyme in isolation and
RT in complex with ubiquitin aldehyde.";
RL Cell 111:1041-1054(2002).
RN [57]
RP IDENTIFICATION IN A COMPLEX WITH CABLES1 AND TP73.
RX PubMed=11706030; DOI=10.1074/jbc.m108535200;
RA Tsuji K., Mizumoto K., Yamochi T., Nishimoto I., Matsuoka M.;
RT "Differential effect of ik3-1/cables on p53- and p73-induced cell death.";
RL J. Biol. Chem. 277:2951-2957(2002).
RN [58]
RP INTERACTION WITH HIPK2.
RX PubMed=11925430; DOI=10.1074/jbc.m200153200;
RA Kim E.-J., Park J.-S., Um S.-J.;
RT "Identification and characterization of HIPK2 interacting with p73 and
RT modulating functions of the p53 family in vivo.";
RL J. Biol. Chem. 277:32020-32028(2002).
RN [59]
RP INTERACTION WITH HIPK2, PHOSPHORYLATION AT SER-46, AND MUTAGENESIS OF
RP SER-46 AND LYS-382.
RX PubMed=11740489; DOI=10.1038/ncb715;
RA Hofmann T.G., Moeller A., Sirma H., Zentgraf H., Taya Y., Droege W.,
RA Will H., Schmitz M.L.;
RT "Regulation of p53 activity by its interaction with homeodomain-interacting
RT protein kinase-2.";
RL Nat. Cell Biol. 4:1-10(2002).
RN [60]
RP INTERACTION WITH HIPK2, AND PHOSPHORYLATION AT SER-46.
RX PubMed=11780126; DOI=10.1038/ncb714;
RA D'Orazi G., Cecchinelli B., Bruno T., Manni I., Higashimoto Y., Saito S.,
RA Gostissa M., Coen S., Marchetti A., Del Sal G., Piaggio G., Fanciulli M.,
RA Appella E., Soddu S.;
RT "Homeodomain-interacting protein kinase-2 phosphorylates p53 at Ser 46 and
RT mediates apoptosis.";
RL Nat. Cell Biol. 4:11-19(2002).
RN [61]
RP INTERACTION WITH ING4.
RX PubMed=12750254;
RA Shiseki M., Nagashima M., Pedeux R.M., Kitahama-Shiseki M., Miura K.,
RA Okamura S., Onogi H., Higashimoto Y., Appella E., Yokota J., Harris C.C.;
RT "p29ING4 and p28ING5 bind to p53 and p300, and enhance p53 activity.";
RL Cancer Res. 63:2373-2378(2003).
RN [62]
RP ACETYLATION AT LYS-305.
RX PubMed=12724314; DOI=10.1074/jbc.m212574200;
RA Wang Y.H., Tsay Y.G., Tan B.C., Lo W.Y., Lee S.C.;
RT "Identification and characterization of a novel p300-mediated p53
RT acetylation site, lysine 305.";
RL J. Biol. Chem. 278:25568-25576(2003).
RN [63]
RP FUNCTION, SUBCELLULAR LOCATION, INTERACTION WITH CHEK2 AND PML,
RP UBIQUITINATION BY MDM2, AND PHOSPHORYLATION AT SER-20.
RX PubMed=12810724; DOI=10.1074/jbc.m301264200;
RA Louria-Hayon I., Grossman T., Sionov R.V., Alsheich O., Pandolfi P.P.,
RA Haupt Y.;
RT "The promyelocytic leukemia protein protects p53 from Mdm2-mediated
RT inhibition and degradation.";
RL J. Biol. Chem. 278:33134-33141(2003).
RN [64]
RP INTERACTION WITH TP53INP1.
RX PubMed=12851404; DOI=10.1074/jbc.m301979200;
RA Tomasini R., Samir A.A., Carrier A., Isnardon D., Cecchinelli B., Soddu S.,
RA Malissen B., Dagorn J.-C., Iovanna J.L., Dusetti N.J.;
RT "TP53INP1s and homeodomain-interacting protein kinase-2 (HIPK2) are
RT partners in regulating p53 activity.";
RL J. Biol. Chem. 278:37722-37729(2003).
RN [65]
RP NUCLEOCYTOPLASMIC SHUTTLING, AND NUCLEAR EXPORT SIGNAL.
RX PubMed=12944468; DOI=10.1128/mcb.23.18.6396-6405.2003;
RA O'Keefe K., Li H., Zhang Y.;
RT "Nucleocytoplasmic shuttling of p53 is essential for MDM2-mediated
RT cytoplasmic degradation but not ubiquitination.";
RL Mol. Cell. Biol. 23:6396-6405(2003).
RN [66]
RP FUNCTION, AND INTERACTION WITH PPP1R13L; PPP1R13B AND TP53BP2.
RX PubMed=12524540; DOI=10.1038/ng1070;
RA Bergamaschi D., Samuels Y., O'Neil N.J., Trigiante G., Crook T.,
RA Hsieh J.-K., O'Connor D.J., Zhong S., Campargue I., Tomlinson M.L.,
RA Kuwabara P.E., Lu X.;
RT "iASPP oncoprotein is a key inhibitor of p53 conserved from worm to
RT human.";
RL Nat. Genet. 33:162-167(2003).
RN [67]
RP INTERACTION WITH HIPK1.
RX PubMed=12702766; DOI=10.1073/pnas.0530308100;
RA Kondo S., Lu Y., Debbas M., Lin A.W., Sarosi I., Itie A., Wakeham A.,
RA Tuan J., Saris C., Elliott G., Ma W., Benchimol S., Lowe S.W., Mak T.W.,
RA Thukral S.K.;
RT "Characterization of cells and gene-targeted mice deficient for the p53-
RT binding kinase homeodomain-interacting protein kinase 1 (HIPK1).";
RL Proc. Natl. Acad. Sci. U.S.A. 100:5431-5436(2003).
RN [68]
RP INTERACTION WITH CDKN2AIP.
RX PubMed=15109303; DOI=10.1042/bj20040337;
RA Hasan M.K., Yaguchi T., Minoda Y., Hirano T., Taira K., Wadhwa R.,
RA Kaul S.C.;
RT "Alternative reading frame protein (ARF)-independent function of CARF
RT (collaborator of ARF) involves its interactions with p53: evidence for a
RT novel p53-activation pathway and its negative feedback control.";
RL Biochem. J. 380:605-610(2004).
RN [69]
RP INTERACTION WITH HRMT1L2; EP300 AND CARM1, AND FUNCTION.
RX PubMed=15186775; DOI=10.1016/j.cell.2004.05.009;
RA An W., Kim J., Roeder R.G.;
RT "Ordered cooperative functions of PRMT1, p300, and CARM1 in transcriptional
RT activation by p53.";
RL Cell 117:735-748(2004).
RN [70]
RP INTERACTION WITH ANKRD2.
RX PubMed=15136035; DOI=10.1016/j.jmb.2004.03.071;
RA Kojic S., Medeot E., Guccione E., Krmac H., Zara I., Martinelli V.,
RA Valle G., Faulkner G.;
RT "The Ankrd2 protein, a link between the sarcomere and the nucleus in
RT skeletal muscle.";
RL J. Mol. Biol. 339:313-325(2004).
RN [71]
RP PHOSPHORYLATION AT THR-55, MUTAGENESIS OF THR-55, AND INTERACTION WITH
RP TAF1.
RX PubMed=15053879; DOI=10.1016/s1097-2765(04)00123-6;
RA Li H.-H., Li A.G., Sheppard H.M., Liu X.;
RT "Phosphorylation on Thr-55 by TAF1 mediates degradation of p53: a role for
RT TAF1 in cell G1 progression.";
RL Mol. Cell 13:867-878(2004).
RN [72]
RP DEUBIQUITINATION BY USP7.
RX PubMed=15053880; DOI=10.1016/s1097-2765(04)00157-1;
RA Li M., Brooks C.L., Kon N., Gu W.;
RT "A dynamic role of HAUSP in the p53-Mdm2 pathway.";
RL Mol. Cell 13:879-886(2004).
RN [73]
RP ALTERNATIVE SPLICING (ISOFORM 4), FUNCTION, SUBCELLULAR LOCATION, AND
RP UBIQUITINATION.
RX PubMed=15340061; DOI=10.1128/mcb.24.18.7987-7997.2004;
RA Ghosh A., Stewart D., Matlashewski G.;
RT "Regulation of human p53 activity and cell localization by alternative
RT splicing.";
RL Mol. Cell. Biol. 24:7987-7997(2004).
RN [74]
RP METHYLATION AT LYS-372, AND MUTAGENESIS OF LYS-372.
RX PubMed=15525938; DOI=10.1038/nature03117;
RA Chuikov S., Kurash J.K., Wilson J.R., Xiao B., Justin N., Ivanov G.S.,
RA McKinney K., Tempst P., Prives C., Gamblin S.J., Barlev N.A., Reinberg D.;
RT "Regulation of p53 activity through lysine methylation.";
RL Nature 432:353-360(2004).
RN [75]
RP ACETYLATION AT LYS-382.
RX PubMed=15448695; DOI=10.1038/ncb1170;
RA Demonacos C., Krstic-Demonacos M., Smith L., Xu D., O'Connor D.P.,
RA Jansson M., La Thangue N.B.;
RT "A new effector pathway links ATM kinase with the DNA damage response.";
RL Nat. Cell Biol. 6:968-976(2004).
RN [76]
RP INTERACTION WITH AURKA, AND PHOSPHORYLATION AT SER-315.
RX PubMed=14702041; DOI=10.1038/ng1279;
RA Katayama H., Sasai K., Kawai H., Yuan Z.M., Bondaruk J., Suzuki F.,
RA Fujii S., Arlinghaus R.B., Czerniak B.A., Sen S.;
RT "Phosphorylation by aurora kinase A induces Mdm2-mediated destabilization
RT and inhibition of p53.";
RL Nat. Genet. 36:55-62(2004).
RN [77]
RP INTERACTION WITH NQO1.
RX PubMed=15687255; DOI=10.1101/gad.319905;
RA Asher G., Tsvetkov P., Kahana C., Shaul Y.;
RT "A mechanism of ubiquitin-independent proteasomal degradation of the tumor
RT suppressors p53 and p73.";
RL Genes Dev. 19:316-321(2005).
RN [78]
RP INTERACTION WITH NOC2L.
RX PubMed=16322561; DOI=10.1101/gad.351205;
RA Hublitz P., Kunowska N., Mayer U.P., Muller J.M., Heyne K., Yin N.,
RA Fritzsche C., Poli C., Miguet L., Schupp I.W., van Grunsven L.A.,
RA Potiers N., van Dorsselaer A., Metzger E., Roemer K., Schule R.;
RT "NIR is a novel INHAT repressor that modulates the transcriptional activity
RT of p53.";
RL Genes Dev. 19:2912-2924(2005).
RN [79]
RP RETRACTED PAPER.
RX PubMed=15701641; DOI=10.1074/jbc.m413200200;
RA Jalota-Badhwar A., Singh K., Pavithra L., Kaul-Ghanekar R., Jameel S.,
RA Chattopadhyay S.;
RT "Tumor suppressor SMAR1 activates and stabilizes p53 through its arginine-
RT serine-rich motif.";
RL J. Biol. Chem. 280:16019-16029(2005).
RN [80]
RP RETRACTION NOTICE OF PUBMED:15701641.
RX PubMed=32144153; DOI=10.1074/jbc.w120.012894;
RA Jalota A., Singh K., Pavithra L., Kaul-Ghanekar R., Jameel S.,
RA Chattopadhyay S.;
RL J. Biol. Chem. 295:3390-3390(2020).
RN [81]
RP INTERACTION WITH PTK2/FAK1.
RX PubMed=15855171; DOI=10.1074/jbc.m414172200;
RA Golubovskaya V.M., Finch R., Cance W.G.;
RT "Direct interaction of the N-terminal domain of focal adhesion kinase with
RT the N-terminal transactivation domain of p53.";
RL J. Biol. Chem. 280:25008-25021(2005).
RN [82]
RP INTERACTION WITH WWOX, AND MUTAGENESIS OF SER-46.
RX PubMed=16219768; DOI=10.1074/jbc.m505590200;
RA Chang N.-S., Doherty J., Ensign A., Schultz L., Hsu L.-J., Hong Q.;
RT "WOX1 is essential for tumor necrosis factor-, UV light-, staurosporine-,
RT and p53-mediated cell death, and its tyrosine 33-phosphorylated form binds
RT and stabilizes serine 46-phosphorylated p53.";
RL J. Biol. Chem. 280:43100-43108(2005).
RN [83]
RP PHOSPHORYLATION AT SER-15.
RX PubMed=15866171; DOI=10.1016/j.molcel.2005.03.027;
RA Jones R.G., Plas D.R., Kubek S., Buzzai M., Mu J., Xu Y., Birnbaum M.J.,
RA Thompson C.B.;
RT "AMP-activated protein kinase induces a p53-dependent metabolic
RT checkpoint.";
RL Mol. Cell 18:283-293(2005).
RN [84]
RP INTERACTION WITH STK11/LKB1, AND PHOSPHORYLATION AT SER-15 AND SER-392.
RX PubMed=17108107; DOI=10.1158/0008-5472.can-06-0999;
RA Zeng P.Y., Berger S.L.;
RT "LKB1 is recruited to the p21/WAF1 promoter by p53 to mediate
RT transcriptional activation.";
RL Cancer Res. 66:10701-10708(2006).
RN [85]
RP PHOSPHORYLATION AT THR-18.
RX PubMed=16704422; DOI=10.1111/j.1742-4658.2006.05256.x;
RA Blanco S., Klimcakova L., Vega F.M., Lazo P.A.;
RT "The subcellular localization of vaccinia-related kinase-2 (VRK2) isoforms
RT determines their different effect on p53 stability in tumour cell lines.";
RL FEBS J. 273:2487-2504(2006).
RN [86]
RP INTERACTION WITH YWHAZ.
RX PubMed=16376338; DOI=10.1016/j.febslet.2005.12.024;
RA Gu Y.-M., Jin Y.-H., Choi J.-K., Baek K.-H., Yeo C.-Y., Lee K.-Y.;
RT "Protein kinase A phosphorylates and regulates dimerization of 14-3-3
RT epsilon.";
RL FEBS Lett. 580:305-310(2006).
RN [87]
RP PHOSPHORYLATION AT SER-46, AND INTERACTION WITH PRKCG.
RX PubMed=16377624; DOI=10.1074/jbc.m512074200;
RA Yoshida K., Liu H., Miki Y.;
RT "Protein kinase C delta regulates Ser46 phosphorylation of p53 tumor
RT suppressor in the apoptotic response to DNA damage.";
RL J. Biol. Chem. 281:5734-5740(2006).
RN [88]
RP METHYLATION AT LYS-370, AND MUTAGENESIS OF LYS-370.
RX PubMed=17108971; DOI=10.1038/nature05287;
RA Huang J., Perez-Burgos L., Placek B.J., Sengupta R., Richter M.,
RA Dorsey J.A., Kubicek S., Opravil S., Jenuwein T., Berger S.L.;
RT "Repression of p53 activity by Smyd2-mediated methylation.";
RL Nature 444:629-632(2006).
RN [89]
RP INTERACTION WITH DAXX.
RX PubMed=16845383; DOI=10.1038/ncb1442;
RA Tang J., Qu L.K., Zhang J., Wang W., Michaelson J.S., Degenhardt Y.Y.,
RA El-Deiry W.S., Yang X.;
RT "Critical role for Daxx in regulating Mdm2.";
RL Nat. Cell Biol. 8:855-862(2006).
RN [90]
RP MOTIF, AND METHYLATION AT LYS-372.
RX PubMed=16415881; DOI=10.1038/nsmb1045;
RA Couture J.-F., Collazo E., Hauk G., Trievel R.C.;
RT "Structural basis for the methylation site specificity of SET7/9.";
RL Nat. Struct. Mol. Biol. 13:140-146(2006).
RN [91]
RP INTERACTION WITH POU4F2.
RX PubMed=17145718; DOI=10.1093/nar/gkl878;
RA Budhram-Mahadeo V.S., Bowen S., Lee S., Perez-Sanchez C., Ensor E.,
RA Morris P.J., Latchman D.S.;
RT "Brn-3b enhances the pro-apoptotic effects of p53 but not its induction of
RT cell cycle arrest by cooperating in trans-activation of bax expression.";
RL Nucleic Acids Res. 34:6640-6652(2006).
RN [92]
RP PHOSPHORYLATION AT SER-37, AND MUTAGENESIS OF SER-37.
RX PubMed=17254968; DOI=10.1016/j.cell.2006.11.050;
RA Sun P., Yoshizuka N., New L., Moser B.A., Li Y., Liao R., Xie C., Chen J.,
RA Deng Q., Yamout M., Dong M.Q., Frangou C.G., Yates J.R. III, Wright P.E.,
RA Han J.;
RT "PRAK is essential for ras-induced senescence and tumor suppression.";
RL Cell 128:295-308(2007).
RN [93]
RP INTERACTION WITH ZNF385A, AND CHARACTERIZATION OF VARIANTS ALA-143; HIS-175
RP AND PRO-175.
RX PubMed=17719541; DOI=10.1016/j.cell.2007.06.013;
RA Das S., Raj L., Zhao B., Kimura Y., Bernstein A., Aaronson S.A., Lee S.W.;
RT "Hzf Determines cell survival upon genotoxic stress by modulating p53
RT transactivation.";
RL Cell 130:624-637(2007).
RN [94]
RP UBIQUITINATION, INTERACTION WITH SYVN1, AND SUBCELLULAR LOCATION.
RX PubMed=17170702; DOI=10.1038/sj.emboj.7601490;
RA Yamasaki S., Yagishita N., Sasaki T., Nakazawa M., Kato Y., Yamadera T.,
RA Bae E., Toriyama S., Ikeda R., Zhang L., Fujitani K., Yoo E.,
RA Tsuchimochi K., Ohta T., Araya N., Fujita H., Aratani S., Eguchi K.,
RA Komiya S., Maruyama I., Higashi N., Sato M., Senoo H., Ochi T.,
RA Yokoyama S., Amano T., Kim J., Gay S., Fukamizu A., Nishioka K., Tanaka K.,
RA Nakajima T.;
RT "Cytoplasmic destruction of p53 by the endoplasmic reticulum-resident
RT ubiquitin ligase 'Synoviolin'.";
RL EMBO J. 26:113-122(2007).
RN [95]
RP INTERACTION WITH PPP2CA; PPP2R1A; PPP2R2A AND PPP2R5C.
RX PubMed=17245430; DOI=10.1038/sj.emboj.7601519;
RA Li H.H., Cai X., Shouse G.P., Piluso L.G., Liu X.;
RT "A specific PP2A regulatory subunit, B56gamma, mediates DNA damage-induced
RT dephosphorylation of p53 at Thr55.";
RL EMBO J. 26:402-411(2007).
RN [96]
RP INTERACTION WITH ARMC10.
RX PubMed=17904127; DOI=10.1016/j.febslet.2007.09.025;
RA Zhou X., Yang G., Huang R., Chen X., Hu G.;
RT "SVH-B interacts directly with p53 and suppresses the transcriptional
RT activity of p53.";
RL FEBS Lett. 581:4943-4948(2007).
RN [97]
RP PHOSPHORYLATION AT SER-9.
RX PubMed=18022393; DOI=10.1016/j.febslet.2007.11.022;
RA Arai S., Matsushita A., Du K., Yagi K., Okazaki Y., Kurokawa R.;
RT "Novel homeodomain-interacting protein kinase family member, HIPK4,
RT phosphorylates human p53 at serine 9.";
RL FEBS Lett. 581:5649-5657(2007).
RN [98]
RP DOMAIN.
RX PubMed=17467953; DOI=10.1016/j.ygeno.2007.02.003;
RA Piskacek S., Gregor M., Nemethova M., Grabner M., Kovarik P., Piskacek M.;
RT "Nine-amino-acid transactivation domain: establishment and prediction
RT utilities.";
RL Genomics 89:756-768(2007).
RN [99]
RP INTERACTION WITH RFFL AND RNF34.
RX PubMed=17121812; DOI=10.1074/jbc.m610793200;
RA Yang W., Rozan L.M., McDonald E.R. III, Navaraj A., Liu J.J., Matthew E.M.,
RA Wang W., Dicker D.T., El-Deiry W.S.;
RT "CARPs are ubiquitin ligases that promote MDM2-independent p53 and phospho-
RT p53ser20 degradation.";
RL J. Biol. Chem. 282:3273-3281(2007).
RN [100]
RP FUNCTION, AND INTERACTION WITH MAML1.
RX PubMed=17317671; DOI=10.1074/jbc.m608974200;
RA Zhao Y., Katzman R.B., Delmolino L.M., Bhat I., Zhang Y., Gurumurthy C.B.,
RA Germaniuk-Kurowska A., Reddi H.V., Solomon A., Zeng M.S., Kung A., Ma H.,
RA Gao Q., Dimri G., Stanculescu A., Miele L., Wu L., Griffin J.D.,
RA Wazer D.E., Band H., Band V.;
RT "The notch regulator MAML1 interacts with p53 and functions as a
RT coactivator.";
RL J. Biol. Chem. 282:11969-11981(2007).
RN [101]
RP PHOSPHORYLATION AT SER-15; SER-33 AND SER-46, INTERACTION WITH CDK5, AND
RP SUBCELLULAR LOCATION.
RX PubMed=17591690; DOI=10.1242/jcs.03468;
RA Lee J.-H., Kim H.-S., Lee S.-J., Kim K.-T.;
RT "Stabilization and activation of p53 induced by Cdk5 contributes to
RT neuronal cell death.";
RL J. Cell Sci. 120:2259-2271(2007).
RN [102]
RP INTERACTION WITH MORC3.
RX PubMed=17332504; DOI=10.1091/mbc.e06-08-0747;
RA Takahashi K., Yoshida N., Murakami N., Kawata K., Ishizaki H.,
RA Tanaka-Okamoto M., Miyoshi J., Zinn A.R., Shime H., Inoue N.;
RT "Dynamic regulation of p53 subnuclear localization and senescence by
RT MORC3.";
RL Mol. Biol. Cell 18:1701-1709(2007).
RN [103]
RP FUNCTION, PHOSPHORYLATION AT SER-46, AND MUTAGENESIS OF SER-46.
RX PubMed=17349958; DOI=10.1016/j.molcel.2007.02.007;
RA Taira N., Nihira K., Yamaguchi T., Miki Y., Yoshida K.;
RT "DYRK2 is targeted to the nucleus and controls p53 via Ser46
RT phosphorylation in the apoptotic response to DNA damage.";
RL Mol. Cell 25:725-738(2007).
RN [104]
RP DEMETHYLATION BY KDM1A.
RX PubMed=17805299; DOI=10.1038/nature06092;
RA Huang J., Sengupta R., Espejo A.B., Lee M.G., Dorsey J.A., Richter M.,
RA Opravil S., Shiekhattar R., Bedford M.T., Jenuwein T., Berger S.L.;
RT "p53 is regulated by the lysine demethylase LSD1.";
RL Nature 449:105-108(2007).
RN [105]
RP METHYLATION AT LYS-382, AND MUTAGENESIS OF LYS-382.
RX PubMed=17707234; DOI=10.1016/j.molcel.2007.07.012;
RA Shi X., Kachirskaia I., Yamaguchi H., West L.E., Wen H., Wang E.W.,
RA Dutta S., Appella E., Gozani O.;
RT "Modulation of p53 function by SET8-mediated methylation at lysine 382.";
RL Mol. Cell 27:636-646(2007).
RN [106]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Embryonic kidney;
RX PubMed=17525332; DOI=10.1126/science.1140321;
RA Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E.,
RA Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y.,
RA Gygi S.P., Elledge S.J.;
RT "ATM and ATR substrate analysis reveals extensive protein networks
RT responsive to DNA damage.";
RL Science 316:1160-1166(2007).
RN [107]
RP ACETYLATION, AND DEACETYLATION BY SIRT2.
RX PubMed=18249187; DOI=10.1016/j.bbrc.2008.01.114;
RA Jin Y.H., Kim Y.J., Kim D.W., Baek K.H., Kang B.Y., Yeo C.Y., Lee K.Y.;
RT "Sirt2 interacts with 14-3-3 beta/gamma and down-regulates the activity of
RT p53.";
RL Biochem. Biophys. Res. Commun. 368:690-695(2008).
RN [108]
RP INTERACTION WITH SETD2.
RX PubMed=18585004; DOI=10.1016/j.cellsig.2008.05.012;
RA Xie P., Tian C., An L., Nie J., Lu K., Xing G., Zhang L., He F.;
RT "Histone methyltransferase protein SETD2 interacts with p53 and selectively
RT regulates its downstream genes.";
RL Cell. Signal. 20:1671-1678(2008).
RN [109]
RP INTERACTION WITH NUPR1.
RX PubMed=18690848; DOI=10.2174/156800908785133196;
RA Clark D.W., Mitra A., Fillmore R.A., Jiang W.G., Samant R.S., Fodstad O.,
RA Shevde L.A.;
RT "NUPR1 interacts with p53, transcriptionally regulates p21 and rescues
RT breast epithelial cells from doxorubicin-induced genotoxic stress.";
RL Curr. Cancer Drug Targets 8:421-430(2008).
RN [110]
RP UBIQUITINATION, AND SUBCELLULAR LOCATION.
RX PubMed=18206965; DOI=10.1016/j.molcel.2007.11.031;
RA Lim S.T., Chen X.L., Lim Y., Hanson D.A., Vo T.T., Howerton K.,
RA Larocque N., Fisher S.J., Schlaepfer D.D., Ilic D.;
RT "Nuclear FAK promotes cell proliferation and survival through FERM-enhanced
RT p53 degradation.";
RL Mol. Cell 29:9-22(2008).
RN [111]
RP INTERACTION WITH KAT7.
RX PubMed=17954561; DOI=10.1128/mcb.00662-07;
RA Iizuka M., Sarmento O.F., Sekiya T., Scrable H., Allis C.D., Smith M.M.;
RT "Hbo1 Links p53-dependent stress signaling to DNA replication licensing.";
RL Mol. Cell. Biol. 28:140-153(2008).
RN [112]
RP INTERACTION WITH PPP2CA; PPP2R1A AND PPP2R5C, PHOSPHORYLATION AT SER-15 BY
RP ATM, AND MUTAGENESIS OF SER-15.
RX PubMed=17967874; DOI=10.1128/mcb.00983-07;
RA Shouse G.P., Cai X., Liu X.;
RT "Serine 15 phosphorylation of p53 directs its interaction with B56gamma and
RT the tumor suppressor activity of B56gamma-specific protein phosphatase
RT 2A.";
RL Mol. Cell. Biol. 28:448-456(2008).
RN [113]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19413330; DOI=10.1021/ac9004309;
RA Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S.;
RT "Lys-N and trypsin cover complementary parts of the phosphoproteome in a
RT refined SCX-based approach.";
RL Anal. Chem. 81:4493-4501(2009).
RN [114]
RP INTERACTION WITH MKRN1, MUTAGENESIS OF 291-LYS-LYS-292, AND UBIQUITINATION
RP AT LYS-291 AND LYS-292 BY MKRN1.
RX PubMed=19536131; DOI=10.1038/emboj.2009.164;
RA Lee E.-W., Lee M.-S., Camus S., Ghim J., Yang M.-R., Oh W., Ha N.-C.,
RA Lane D.P., Song J.;
RT "Differential regulation of p53 and p21 by MKRN1 E3 ligase controls cell
RT cycle arrest and apoptosis.";
RL EMBO J. 28:2100-2113(2009).
RN [115]
RP UBIQUITINATION BY TOPORS.
RX PubMed=19473992; DOI=10.1074/jbc.c109.001560;
RA Yang X., Li H., Zhou Z., Wang W.H., Deng A., Andrisani O., Liu X.;
RT "Plk1-mediated phosphorylation of Topors regulates p53 stability.";
RL J. Biol. Chem. 284:18588-18592(2009).
RN [116]
RP INTERACTION WITH MTA1 AND COP1, AND UBIQUITINATION.
RX PubMed=19837670; DOI=10.1074/jbc.m109.056499;
RA Li D.Q., Divijendra Natha Reddy S., Pakala S.B., Wu X., Zhang Y.,
RA Rayala S.K., Kumar R.;
RT "MTA1 coregulator regulates p53 stability and function.";
RL J. Biol. Chem. 284:34545-34552(2009).
RN [117]
RP INTERACTION WITH HHV-5 PROTEIN UL123 (MICROBIAL INFECTION).
RX PubMed=19776115; DOI=10.1128/jvi.00304-09;
RA Hwang E.S., Zhang Z., Cai H., Huang D.Y., Huong S.M., Cha C.Y., Huang E.S.;
RT "Human cytomegalovirus IE1-72 protein interacts with p53 and inhibits p53-
RT dependent transactivation by a mechanism different from that of IE2-86
RT protein.";
RL J. Virol. 83:12388-12398(2009).
RN [118]
RP INTERACTION WITH FBXO42.
RX PubMed=19509332; DOI=10.1073/pnas.0901864106;
RA Sun L., Shi L., Li W., Yu W., Liang J., Zhang H., Yang X., Wang Y., Li R.,
RA Yao X., Yi X., Shang Y.;
RT "JFK, a Kelch domain-containing F-box protein, links the SCF complex to p53
RT regulation.";
RL Proc. Natl. Acad. Sci. U.S.A. 106:10195-10200(2009).
RN [119]
RP FUNCTION, UBIQUITINATION, AND INTERACTION WITH TRIM24.
RX PubMed=19556538; DOI=10.1073/pnas.0813177106;
RA Allton K., Jain A.K., Herz H.M., Tsai W.W., Jung S.Y., Qin J., Bergmann A.,
RA Johnson R.L., Barton M.C.;
RT "Trim24 targets endogenous p53 for degradation.";
RL Proc. Natl. Acad. Sci. U.S.A. 106:11612-11616(2009).
RN [120]
RP ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-381 AND LYS-382, AND
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=19608861; DOI=10.1126/science.1175371;
RA Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T.C.,
RA Olsen J.V., Mann M.;
RT "Lysine acetylation targets protein complexes and co-regulates major
RT cellular functions.";
RL Science 325:834-840(2009).
RN [121]
RP INTERACTION WITH TAF6 ISOFORMS 1 AND 4.
RX PubMed=20096117; DOI=10.1186/1471-2199-11-10;
RA Wilhelm E., Kornete M., Targat B., Vigneault-Edwards J., Frontini M.,
RA Tora L., Benecke A., Bell B.;
RT "TAF6delta orchestrates an apoptotic transcriptome profile and interacts
RT functionally with p53.";
RL BMC Mol. Biol. 11:10-10(2010).
RN [122]
RP UBIQUITINATION, AND DEUBIQUITINATION BY USP10.
RX PubMed=20096447; DOI=10.1016/j.cell.2009.12.032;
RA Yuan J., Luo K., Zhang L., Cheville J.C., Lou Z.;
RT "USP10 regulates p53 localization and stability by deubiquitinating p53.";
RL Cell 140:384-396(2010).
RN [123]
RP FUNCTION.
RX PubMed=20673990; DOI=10.1016/j.cell.2010.06.040;
RA Huarte M., Guttman M., Feldser D., Garber M., Koziol M.J.,
RA Kenzelmann-Broz D., Khalil A.M., Zuk O., Amit I., Rabani M., Attardi L.D.,
RA Regev A., Lander E.S., Jacks T., Rinn J.L.;
RT "A large intergenic noncoding RNA induced by p53 mediates global gene
RT repression in the p53 response.";
RL Cell 142:409-419(2010).
RN [124]
RP PHOSPHORYLATION AT SER-20 BY CSNK1D/CK1.
RX PubMed=20041275; DOI=10.1007/s00018-009-0236-7;
RA Venerando A., Marin O., Cozza G., Bustos V.H., Sarno S., Pinna L.A.;
RT "Isoform specific phosphorylation of p53 by protein kinase CK1.";
RL Cell. Mol. Life Sci. 67:1105-1118(2010).
RN [125]
RP INTERACTION WITH SNAI1, CHARACTERIZATION OF VARIANTS LEU-110; PRO-155;
RP HIS-175; SER-232; SER-249; HIS-273 AND TRP-282, AND MUTAGENESIS OF ARG-248.
RX PubMed=20385133; DOI=10.1016/j.febslet.2010.04.006;
RA Lim S.O., Kim H., Jung G.;
RT "p53 inhibits tumor cell invasion via the degradation of snail protein in
RT hepatocellular carcinoma.";
RL FEBS Lett. 584:2231-2236(2010).
RN [126]
RP INTERACTION WITH PTK2B/PYK2 AND MDM2, UBIQUITINATION, AND SUBCELLULAR
RP LOCATION.
RX PubMed=19880522; DOI=10.1074/jbc.m109.064212;
RA Lim S.T., Miller N.L., Nam J.O., Chen X.L., Lim Y., Schlaepfer D.D.;
RT "Pyk2 inhibition of p53 as an adaptive and intrinsic mechanism facilitating
RT cell proliferation and survival.";
RL J. Biol. Chem. 285:1743-1753(2010).
RN [127]
RP METHYLATION AT LYS-373, AND MUTAGENESIS OF LYS-373.
RX PubMed=20118233; DOI=10.1074/jbc.m109.062588;
RA Huang J., Dorsey J., Chuikov S., Perez-Burgos L., Zhang X., Jenuwein T.,
RA Reinberg D., Berger S.L.;
RT "G9a and Glp methylate lysine 373 in the tumor suppressor p53.";
RL J. Biol. Chem. 285:9636-9641(2010).
RN [128]
RP ERRATUM OF PUBMED:20118233.
RA Huang J., Dorsey J., Chuikov S., Perez-Burgos L., Zhang X., Jenuwein T.,
RA Reinberg D., Berger S.L.;
RL J. Biol. Chem. 285:18122-18122(2010).
RN [129]
RP PHOSPHORYLATION AT THR-55, AND INTERACTION WITH GRK5.
RX PubMed=20124405; DOI=10.1074/jbc.m109.094243;
RA Chen X., Zhu H., Yuan M., Fu J., Zhou Y., Ma L.;
RT "G-protein-coupled receptor kinase 5 phosphorylates p53 and inhibits DNA
RT damage-induced apoptosis.";
RL J. Biol. Chem. 285:12823-12830(2010).
RN [130]
RP INTERACTION WITH BRD7, AND ACETYLATION AT LYS-382.
RX PubMed=20228809; DOI=10.1038/ncb2038;
RA Drost J., Mantovani F., Tocco F., Elkon R., Comel A., Holstege H.,
RA Kerkhoven R., Jonkers J., Voorhoeve P.M., Agami R., Del Sal G.;
RT "BRD7 is a candidate tumour suppressor gene required for p53 function.";
RL Nat. Cell Biol. 12:380-389(2010).
RN [131]
RP UBIQUITINATION BY RFWD3.
RX PubMed=20173098; DOI=10.1073/pnas.0912094107;
RA Fu X., Yucer N., Liu S., Li M., Yi P., Mu J.J., Yang T., Chu J., Jung S.Y.,
RA O'Malley B.W., Gu W., Qin J., Wang Y.;
RT "RFWD3-Mdm2 ubiquitin ligase complex positively regulates p53 stability in
RT response to DNA damage.";
RL Proc. Natl. Acad. Sci. U.S.A. 107:4579-4584(2010).
RN [132]
RP INTERACTION WITH BRD7.
RX PubMed=20660729; DOI=10.1073/pnas.1009559107;
RA Burrows A.E., Smogorzewska A., Elledge S.J.;
RT "Polybromo-associated BRG1-associated factor components BRD7 and BAF180 are
RT critical regulators of p53 required for induction of replicative
RT senescence.";
RL Proc. Natl. Acad. Sci. U.S.A. 107:14280-14285(2010).
RN [133]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T.,
RA Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
RN [134]
RP INTERACTION WITH UHRF2.
RX PubMed=21952639; DOI=10.4161/cc.10.19.17176;
RA Mori T., Ikeda D.D., Fukushima T., Takenoshita S., Kochi H.;
RT "NIRF constitutes a nodal point in the cell cycle network and is a
RT candidate tumor suppressor.";
RL Cell Cycle 10:3284-3299(2011).
RN [135]
RP INTERACTION WITH MUL1, SUBCELLULAR LOCATION, UBIQUITINATION AT LYS-24 BY
RP MUL1, AND MUTAGENESIS OF LYS-24.
RX PubMed=21597459; DOI=10.1038/cdd.2011.57;
RA Jung J.H., Bae S., Lee J.Y., Woo S.R., Cha H.J., Yoon Y., Suh K.S.,
RA Lee S.J., Park I.C., Jin Y.W., Lee K.H., An S., Lee J.H.;
RT "E3 ubiquitin ligase Hades negatively regulates the exonuclear function of
RT p53.";
RL Cell Death Differ. 18:1865-1875(2011).
RN [136]
RP FUNCTION, INTERACTION WITH AURKB AND NOC2L, PHOSPHORYLATION AT SER-183;
RP SER-269 AND THR-284, CHARACTERIZATION OF VARIANT ALA-284, MUTAGENESIS OF
RP SER-183; SER-269 AND THR-284, AND IDENTIFICATION BY MASS SPECTROMETRY.
RX PubMed=20959462; DOI=10.1074/jbc.m110.174755;
RA Wu L., Ma C.A., Zhao Y., Jain A.;
RT "Aurora B interacts with NIR-p53, leading to p53 phosphorylation in its
RT DNA-binding domain and subsequent functional suppression.";
RL J. Biol. Chem. 286:2236-2244(2011).
RN [137]
RP INVOLVEMENT IN BCC7.
RX PubMed=21946351; DOI=10.1038/ng.926;
RA Stacey S.N., Sulem P., Jonasdottir A., Masson G., Gudmundsson J.,
RA Gudbjartsson D.F., Magnusson O.T., Gudjonsson S.A., Sigurgeirsson B.,
RA Thorisdottir K., Ragnarsson R., Benediktsdottir K.R., Nexo B.A.,
RA Tjonneland A., Overvad K., Rudnai P., Gurzau E., Koppova K., Hemminki K.,
RA Corredera C., Fuentelsaz V., Grasa P., Navarrete S., Fuertes F.,
RA Garcia-Prats M.D., Sanambrosio E., Panadero A., De Juan A., Garcia A.,
RA Rivera F., Planelles D., Soriano V., Requena C., Aben K.K.,
RA van Rossum M.M., Cremers R.G., van Oort I.M., van Spronsen D.J.,
RA Schalken J.A., Peters W.H., Helfand B.T., Donovan J.L., Hamdy F.C.,
RA Badescu D., Codreanu O., Jinga M., Csiki I.E., Constantinescu V., Badea P.,
RA Mates I.N., Dinu D.E., Constantin A., Mates D., Kristjansdottir S.,
RA Agnarsson B.A., Jonsson E., Barkardottir R.B., Einarsson G.V.,
RA Sigurdsson F., Moller P.H., Stefansson T., Valdimarsson T.,
RA Johannsson O.T., Sigurdsson H., Jonsson T., Jonasson J.G.,
RA Tryggvadottir L., Rice T., Hansen H.M., Xiao Y., Lachance D.H.,
RA O'Neill B.P., Kosel M.L., Decker P.A., Thorleifsson G., Johannsdottir H.,
RA Helgadottir H.T., Sigurdsson A., Steinthorsdottir V., Lindblom A.,
RA Sandler R.S., Keku T.O., Banasik K., Jorgensen T., Witte D.R., Hansen T.,
RA Pedersen O., Jinga V., Neal D.E., Catalona W.J., Wrensch M., Wiencke J.,
RA Jenkins R.B., Nagore E., Vogel U., Kiemeney L.A., Kumar R., Mayordomo J.I.,
RA Olafsson J.H., Kong A., Thorsteinsdottir U., Rafnar T., Stefansson K.;
RT "A germline variant in the TP53 polyadenylation signal confers cancer
RT susceptibility.";
RL Nat. Genet. 43:1098-1103(2011).
RN [138]
RP INTERACTION WITH NUAK1, AND PHOSPHORYLATION AT SER-15 AND SER-392.
RX PubMed=21317932; DOI=10.1038/onc.2011.19;
RA Hou X., Liu J.E., Liu W., Liu C.Y., Liu Z.Y., Sun Z.Y.;
RT "A new role of NUAK1: directly phosphorylating p53 and regulating cell
RT proliferation.";
RL Oncogene 30:2933-2942(2011).
RN [139]
RP FUNCTION, SUBCELLULAR LOCATION, AND INTERACTION WITH PPIF.
RX PubMed=22726440; DOI=10.1016/j.cell.2012.05.014;
RA Vaseva A.V., Marchenko N.D., Ji K., Tsirka S.E., Holzmann S., Moll U.M.;
RT "p53 opens the mitochondrial permeability transition pore to trigger
RT necrosis.";
RL Cell 149:1536-1548(2012).
RN [140]
RP INTERACTION WITH UBC9, PHOSPHORYLATION AT SER-392, AND SUMOYLATION AT
RP LYS-386.
RX PubMed=22214662; DOI=10.4161/cc.11.2.18999;
RA Bennett R.L., Pan Y., Christian J., Hui T., May W.S. Jr.;
RT "The RAX/PACT-PKR stress response pathway promotes p53 sumoylation and
RT activation, leading to G(1) arrest.";
RL Cell Cycle 11:407-417(2012).
RN [141]
RP INTERACTION WITH NOP53.
RX PubMed=22522597; DOI=10.1038/cdd.2012.40;
RA Lee S., Kim J.Y., Kim Y.J., Seok K.O., Kim J.H., Chang Y.J., Kang H.Y.,
RA Park J.H.;
RT "Nucleolar protein GLTSCR2 stabilizes p53 in response to ribosomal
RT stresses.";
RL Cell Death Differ. 19:1613-1622(2012).
RN [142]
RP INTERACTION WITH ZNF385B.
RX PubMed=22945289; DOI=10.1002/eji.201242530;
RA Iijima K., Yamada H., Miharu M., Imadome K., Miyagawa Y., Akimoto S.,
RA Kobayashi K., Okita H., Nakazawa A., Fujiwara S., Fujimoto J., Kiyokawa N.;
RT "ZNF385B is characteristically expressed in germinal center B cells and
RT involved in B-cell apoptosis.";
RL Eur. J. Immunol. 42:3405-3415(2012).
RN [143]
RP METHYLATION AT LYS-370 AND LYS-382.
RX PubMed=22864287; DOI=10.1038/nsmb.2353;
RA Cui G., Park S., Badeaux A.I., Kim D., Lee J., Thompson J.R., Yan F.,
RA Kaneko S., Yuan Z., Botuyan M.V., Bedford M.T., Cheng J.Q., Mer G.;
RT "PHF20 is an effector protein of p53 double lysine methylation that
RT stabilizes and activates p53.";
RL Nat. Struct. Mol. Biol. 19:916-924(2012).
RN [144]
RP FUNCTION.
RX PubMed=24051492; DOI=10.1038/ncomms3444;
RA Miki T., Matsumoto T., Zhao Z., Lee C.C.;
RT "p53 regulates Period2 expression and the circadian clock.";
RL Nat. Commun. 4:2444-2444(2013).
RN [145]
RP INTERACTION WITH KAT6A, AND ACETYLATION AT LYS-120 AND LYS-382.
RX PubMed=23431171; DOI=10.1073/pnas.1300490110;
RA Rokudai S., Laptenko O., Arnal S.M., Taya Y., Kitabayashi I., Prives C.;
RT "MOZ increases p53 acetylation and premature senescence through its complex
RT formation with PML.";
RL Proc. Natl. Acad. Sci. U.S.A. 110:3895-3900(2013).
RN [146]
RP INTERACTION WITH S100A4, AND SUBCELLULAR LOCATION.
RX PubMed=23752197; DOI=10.1038/onc.2013.213;
RA Orre L.M., Panizza E., Kaminskyy V.O., Vernet E., Graeslund T.,
RA Zhivotovsky B., Lehtioe J.;
RT "S100A4 interacts with p53 in the nucleus and promotes p53 degradation.";
RL Oncogene 32:5531-5540(2013).
RN [147]
RP FUNCTION.
RX PubMed=24652652; DOI=10.1093/jnci/dju053;
RA Polato F., Rusconi P., Zangrossi S., Morelli F., Boeri M., Musi A.,
RA Marchini S., Castiglioni V., Scanziani E., Torri V., Broggini M.;
RT "DRAGO (KIAA0247), a new DNA damage-responsive, p53-inducible gene that
RT cooperates with p53 as oncosuppressor. [Corrected].";
RL J. Natl. Cancer Inst. 106:1-10(2014).
RN [148]
RP INTERACTION WITH UBD.
RX PubMed=25422469; DOI=10.1073/pnas.1403383111;
RA Theng S.S., Wang W., Mah W.C., Chan C., Zhuo J., Gao Y., Qin H., Lim L.,
RA Chong S.S., Song J., Lee C.G.;
RT "Disruption of FAT10-MAD2 binding inhibits tumor progression.";
RL Proc. Natl. Acad. Sci. U.S.A. 111:E5282-E5291(2014).
RN [149]
RP INTERACTION WITH TTC5, AND SUBCELLULAR LOCATION.
RX PubMed=25168243; DOI=10.1038/cdd.2014.135;
RA Maniam S., Coutts A.S., Stratford M.R., McGouran J., Kessler B.,
RA La Thangue N.B.;
RT "Cofactor Strap regulates oxidative phosphorylation and mitochondrial p53
RT activity through ATP synthase.";
RL Cell Death Differ. 22:156-163(2015).
RN [150]
RP UBIQUITINATION.
RX PubMed=25591766; DOI=10.1159/000369691;
RA Yang L., Zhou B., Li X., Lu Z., Li W., Huo X., Miao Z.;
RT "RNF125 is a ubiquitin-protein ligase that promotes p53 degradation.";
RL Cell. Physiol. Biochem. 35:237-245(2015).
RN [151]
RP INTERACTION WITH HADV5 E1B-55K (MICROBIAL INFECTION).
RX PubMed=25772236; DOI=10.1038/onc.2015.63;
RA Wimmer P., Berscheminski J., Blanchette P., Groitl P., Branton P.E.,
RA Hay R.T., Dobner T., Schreiner S.;
RT "PML isoforms IV and V contribute to adenovirus-mediated oncogenic
RT transformation by functionally inhibiting the tumor-suppressor p53.";
RL Oncogene 35:69-82(2016).
RN [152]
RP INTERACTION WITH AFG1L, AND SUBCELLULAR LOCATION.
RX PubMed=27323408; DOI=10.18632/oncotarget.9959;
RA Cesnekova J., Spacilova J., Hansikova H., Houstek J., Zeman J.,
RA Stiburek L.;
RT "LACE1 interacts with p53 and mediates its mitochondrial translocation and
RT apoptosis.";
RL Oncotarget 7:47687-47698(2016).
RN [153]
RP INTERACTION WITH DDX3X AND GAMMA-TUBULIN, SUBCELLULAR LOCATION, AND
RP PHOSPHORYLATION AT SER-15.
RX PubMed=28842590; DOI=10.1038/s41598-017-09779-w;
RA Chen W.J., Wang W.T., Tsai T.Y., Li H.K., Lee Y.W.;
RT "DDX3 localizes to the centrosome and prevents multipolar mitosis by
RT epigenetically and translationally modulating p53 expression.";
RL Sci. Rep. 7:9411-9411(2017).
RN [154]
RP INVOLVEMENT IN BMFS5.
RX PubMed=30146126; DOI=10.1016/j.ajhg.2018.07.020;
RA Toki T., Yoshida K., Wang R., Nakamura S., Maekawa T., Goi K., Katoh M.C.,
RA Mizuno S., Sugiyama F., Kanezaki R., Uechi T., Nakajima Y., Sato Y.,
RA Okuno Y., Sato-Otsubo A., Shiozawa Y., Kataoka K., Shiraishi Y., Sanada M.,
RA Chiba K., Tanaka H., Terui K., Sato T., Kamio T., Sakaguchi H., Ohga S.,
RA Kuramitsu M., Hamaguchi I., Ohara A., Kanno H., Miyano S., Kojima S.,
RA Ishiguro A., Sugita K., Kenmochi N., Takahashi S., Eto K., Ogawa S.,
RA Ito E.;
RT "De novo mutations activating germline TP53 in an inherited bone-marrow-
RT failure syndrome.";
RL Am. J. Hum. Genet. 103:440-447(2018).
RN [155]
RP ACETYLATION AT LYS-381, DEACETYLATION BY SIRT6, AND MUTAGENESIS OF LYS-381.
RX PubMed=29474172; DOI=10.7554/elife.32127;
RA Ghosh S., Wong S.K., Jiang Z., Liu B., Wang Y., Hao Q., Gorbunova V.,
RA Liu X., Zhou Z.;
RT "Haploinsufficiency of Trp53 dramatically extends the lifespan of Sirt6-
RT deficient mice.";
RL Elife 7:0-0(2018).
RN [156]
RP INTERACTION WITH KAPOSI'S SARCOMA-ASSOCIATED HERPESVIRUS/HHV-8 PROTEIN
RP ORF45 (MICROBIAL INFECTION).
RX PubMed=34523970; DOI=10.1128/jvi.01459-21;
RA Alzhanova D., Meyo J.O., Juarez A., Dittmer D.P.;
RT "The ORF45 protein of Kaposi Sarcoma-associated Herpesvirus (KSHV) is an
RT inhibitor of p53 signaling during viral reactivation.";
RL J. Virol. 0:0-0(2021).
RN [157]
RP STRUCTURE BY NMR OF 319-360.
RX PubMed=8023159; DOI=10.1126/science.8023159;
RA Clore G.M., Omichinski J.G., Sakaguchi K., Zambrano N., Sakamoto H.,
RA Appella E., Gronenborn A.M.;
RT "High-resolution structure of the oligomerization domain of p53 by
RT multidimensional NMR.";
RL Science 265:386-391(1994).
RN [158]
RP STRUCTURE BY NMR OF 325-355.
RX PubMed=7773777; DOI=10.1038/nsb1294-877;
RA Lee W., Harvey T.S., Yin Y., Yau P., Litchfield D., Arrowsmith C.H.;
RT "Solution structure of the tetrameric minimum transforming domain of p53.";
RL Nat. Struct. Biol. 1:877-890(1994).
RN [159]
RP STRUCTURE BY NMR OF 326-354.
RX PubMed=9321402; DOI=10.1093/emboj/16.20.6230;
RA McCoy M., Stavridi E.S., Waterman J.L., Wieczorek A.M., Opella S.J.,
RA Halazonetis T.D.;
RT "Hydrophobic side-chain size is a determinant of the three-dimensional
RT structure of the p53 oligomerization domain.";
RL EMBO J. 16:6230-6236(1997).
RN [160]
RP X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 94-289.
RX PubMed=8023157; DOI=10.1126/science.8023157;
RA Cho Y., Gorina S., Jeffrey P.D., Pavletich N.P.;
RT "Crystal structure of a p53 tumor suppressor-DNA complex: understanding
RT tumorigenic mutations.";
RL Science 265:346-355(1994).
RN [161]
RP X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 325-356.
RX PubMed=7878469; DOI=10.1126/science.7878469;
RA Jeffrey P.D., Gorina S., Pavletich N.P.;
RT "Crystal structure of the tetramerization domain of the p53 tumor
RT suppressor at 1.7 angstroms.";
RL Science 267:1498-1502(1995).
RN [162]
RP X-RAY CRYSTALLOGRAPHY (2.3 ANGSTROMS) OF 13-29 IN COMPLEX WITH MDM2.
RX PubMed=8875929; DOI=10.1126/science.274.5289.948;
RA Kussie P.H., Gorina S., Marechal V., Elenbaas B., Moreau J., Levine A.J.,
RA Pavletich N.P.;
RT "Structure of the MDM2 oncoprotein bound to the p53 tumor suppressor
RT transactivation domain.";
RL Science 274:948-953(1996).
RN [163]
RP X-RAY CRYSTALLOGRAPHY (2.2 ANGSTROMS) OF 97-287 IN COMPLEX WITH 53BP2.
RX PubMed=8875926; DOI=10.1126/science.274.5289.1001;
RA Gorina S., Pavletich N.P.;
RT "Structure of the p53 tumor suppressor bound to the ankyrin and SH3 domains
RT of 53BP2.";
RL Science 274:1001-1005(1996).
RN [164]
RP X-RAY CRYSTALLOGRAPHY (1.9 ANGSTROMS) OF 94-312 IN COMPLEX WITH ZINC IONS,
RP AND SUBUNIT.
RX PubMed=14534297; DOI=10.1074/jbc.m309732200;
RA Joerger A.C., Allen M.D., Fersht A.R.;
RT "Crystal structure of a superstable mutant of human p53 core domain.
RT Insights into the mechanism of rescuing oncogenic mutations.";
RL J. Biol. Chem. 279:1291-1296(2004).
RN [165]
RP X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 94-293 IN COMPLEX WITH DNA AND
RP ZINC IONS, AND SUBUNIT.
RX PubMed=16793544; DOI=10.1016/j.molcel.2006.05.015;
RA Kitayner M., Rozenberg H., Kessler N., Rabinovich D., Shaulov L.,
RA Haran T.E., Shakked Z.;
RT "Structural basis of DNA recognition by p53 tetramers.";
RL Mol. Cell 22:741-753(2006).
RN [166]
RP X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF 358-367 IN COMPLEX WITH USP7, AND
RP INTERACTION WITH USP7.
RX PubMed=16474402; DOI=10.1038/nsmb1067;
RA Sheng Y., Saridakis V., Sarkari F., Duan S., Wu T., Arrowsmith C.H.,
RA Frappier L.;
RT "Molecular recognition of p53 and MDM2 by USP7/HAUSP.";
RL Nat. Struct. Mol. Biol. 13:285-291(2006).
RN [167]
RP X-RAY CRYSTALLOGRAPHY (1.65 ANGSTROMS) OF 360-368 IN COMPLEX WITH USP7,
RP MUTAGENESIS OF PRO-359; GLY-361 AND SER-362, AND INTERACTION WITH USP7.
RX PubMed=16402859; DOI=10.1371/journal.pbio.0040027;
RA Hu M., Gu L., Li M., Jeffrey P.D., Gu W., Shi Y.;
RT "Structural basis of competitive recognition of p53 and MDM2 by HAUSP/USP7:
RT implications for the regulation of the p53-MDM2 pathway.";
RL PLoS Biol. 4:228-239(2006).
RN [168]
RP X-RAY CRYSTALLOGRAPHY (2.50 ANGSTROMS) OF 377-386, METHYLATION AT LYS-382,
RP MUTAGENESIS OF LYS-382, AND INTERACTION WITH L3MBTL1.
RX PubMed=20870725; DOI=10.1074/jbc.m110.139527;
RA West L.E., Roy S., Lachmi-Weiner K., Hayashi R., Shi X., Appella E.,
RA Kutateladze T.G., Gozani O.;
RT "The MBT repeats of L3MBTL1 link SET8-mediated p53 methylation at lysine
RT 382 to target gene repression.";
RL J. Biol. Chem. 285:37725-37732(2010).
RN [169]
RP REVIEW.
RX PubMed=8266092; DOI=10.1126/science.8266092;
RA Harris C.C.;
RT "p53: at the crossroads of molecular carcinogenesis and risk assessment.";
RL Science 262:1980-1981(1993).
RN [170]
RP REVIEW ON VARIANTS.
RX PubMed=1905840; DOI=10.1126/science.1905840;
RA Hoolstein M., Sidransky D., Vogelstein B., Harris C.C.;
RT "p53 mutations in human cancers.";
RL Science 253:49-53(1991).
RN [171]
RP REVIEW ON VARIANTS.
RX PubMed=8829653;
RX DOI=10.1002/(sici)1098-1004(1996)7:3<202::aid-humu4>3.0.co;2-c;
RA de Vries E.M.G., Ricke D.O., de Vries T.N., Hartmann A., Blaszyk H.,
RA Liao D., Soussi T., Kovach J.S., Sommer S.S.;
RT "Database of mutations in the p53 and APC tumor suppressor genes designed
RT to facilitate molecular epidemiological analyses.";
RL Hum. Mutat. 7:202-213(1996).
RN [172]
RP X-RAY CRYSTALLOGRAPHY (1.65 ANGSTROMS) OF 94-312 IN COMPLEX WITH ZINC IONS.
RX PubMed=17015838; DOI=10.1073/pnas.0607286103;
RA Joerger A.C., Ang H.C., Fersht A.R.;
RT "Structural basis for understanding oncogenic p53 mutations and designing
RT rescue drugs.";
RL Proc. Natl. Acad. Sci. U.S.A. 103:15056-15061(2006).
RN [173]
RP X-RAY CRYSTALLOGRAPHY (1.54 ANGSTROMS) OF 94-292 OF VARIANT GLN-282.
RX PubMed=18453682; DOI=10.1107/s0907444908003338;
RA Tu C., Tan Y.H., Shaw G., Zhou Z., Bai Y., Luo R., Ji X.;
RT "Impact of low-frequency hotspot mutation R282Q on the structure of p53
RT DNA-binding domain as revealed by crystallography at 1.54 angstroms
RT resolution.";
RL Acta Crystallogr. D 64:471-477(2008).
RN [174]
RP X-RAY CRYSTALLOGRAPHY (1.5 ANGSTROMS) OF 94-312 OF VARIANT CYS-202 IN
RP COMPLEX WITH ZINC IONS AND PHIKAN083.
RX PubMed=18650397; DOI=10.1073/pnas.0805326105;
RA Boeckler F.M., Joerger A.C., Jaggi G., Rutherford T.J., Veprintsev D.B.,
RA Fersht A.R.;
RT "Targeted rescue of a destabilized mutant of p53 by an in silico screened
RT drug.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10360-10365(2008).
RN [175]
RP X-RAY CRYSTALLOGRAPHY (1.2 ANGSTROMS) OF 94-293 OF VARIANT SER-249 IN
RP COMPLEX WITH DNA.
RX PubMed=18996393; DOI=10.1016/j.jmb.2008.10.063;
RA Suad O., Rozenberg H., Brosh R., Diskin-Posner Y., Kessler N., Shimon L.J.,
RA Frolow F., Liran A., Rotter V., Shakked Z.;
RT "Structural basis of restoring sequence-specific DNA binding and
RT transactivation to mutant p53 by suppressor mutations.";
RL J. Mol. Biol. 385:249-265(2009).
RN [176]
RP X-RAY CRYSTALLOGRAPHY (1.75 ANGSTROMS) OF 94-310 IN COMPLEX WITH ZINC IONS.
RX PubMed=19515728; DOI=10.1093/protein/gzp018;
RA Khoo K.H., Joerger A.C., Freund S.M., Fersht A.R.;
RT "Stabilising the DNA-binding domain of p53 by rational design of its
RT hydrophobic core.";
RL Protein Eng. Des. Sel. 22:421-430(2009).
RN [177]
RP X-RAY CRYSTALLOGRAPHY (1.6 ANGSTROMS) OF 94-312 OF VARIANT CYS-220 IN
RP COMPLEX WITH ZINC IONS.
RX PubMed=20142040; DOI=10.1016/j.chembiol.2009.12.011;
RA Basse N., Kaar J.L., Settanni G., Joerger A.C., Rutherford T.J.,
RA Fersht A.R.;
RT "Toward the rational design of p53-stabilizing drugs: probing the surface
RT of the oncogenic Y220C mutant.";
RL Chem. Biol. 17:46-56(2010).
RN [178]
RP X-RAY CRYSTALLOGRAPHY (1.7 ANGSTROMS) OF 94-293 IN COMPLEX WITH DNA AND
RP ZINC IONS, AND SUBUNIT.
RX PubMed=20364130; DOI=10.1038/nsmb.1800;
RA Kitayner M., Rozenberg H., Rohs R., Suad O., Rabinovich D., Honig B.,
RA Shakked Z.;
RT "Diversity in DNA recognition by p53 revealed by crystal structures with
RT Hoogsteen base pairs.";
RL Nat. Struct. Mol. Biol. 17:423-429(2010).
RN [179] {ECO:0007744|PDB:6T58}
RP X-RAY CRYSTALLOGRAPHY (3.10 ANGSTROMS) OF 17-56, AND INTERACTION WITH
RP S100A4.
RX PubMed=32442400; DOI=10.1016/j.str.2020.05.001;
RA Ecsedi P., Gogl G., Hof H., Kiss B., Harmat V., Nyitray L.;
RT "Structure Determination of the Transactivation Domain of p53 in Complex
RT with S100A4Using Annexin A2 as a Crystallization Chaperone.";
RL Structure 28:943-953.e4(2020).
RN [180]
RP VARIANT ARG-72.
RX PubMed=1999338; DOI=10.1007/bf00201836;
RA Olschwang S., Laurent-Puig P., Vassal A., Salmon R.-J., Thomas G.;
RT "Characterization of a frequent polymorphism in the coding sequence of the
RT Tp53 gene in colonic cancer patients and a control population.";
RL Hum. Genet. 86:369-370(1991).
RN [181]
RP VARIANT LFS THR-133.
RX PubMed=1933902;
RA Law J.C., Strong L.C., Chidambaram A., Ferrell R.E.;
RT "A germ line mutation in exon 5 of the p53 gene in an extended cancer
RT family.";
RL Cancer Res. 51:6385-6387(1991).
RN [182]
RP VARIANTS LFS CYS-245; TRP-248; PRO-252 AND LYS-258.
RX PubMed=1978757; DOI=10.1126/science.1978757;
RA Malkin D., Li F.P., Strong L.C., Fraumeni J.F. Jr., Nelson C.E., Kim D.H.,
RA Kassel J., Gryka M.A., Bischoff F.Z., Tainsky M.A., Friend S.H.;
RT "Germ line p53 mutations in a familial syndrome of breast cancer, sarcomas,
RT and other neoplasms.";
RL Science 250:1233-1238(1990).
RN [183]
RP VARIANT LFS ASP-245.
RX PubMed=2259385; DOI=10.1038/348747a0;
RA Srivastava S., Zou Z., Pirollo K., Blattner W., Chang E.H.;
RT "Germ-line transmission of a mutated p53 gene in a cancer-prone family with
RT Li-Fraumeni syndrome.";
RL Nature 348:747-749(1990).
RN [184]
RP VARIANT LFS LEU-272.
RX PubMed=1737852; DOI=10.1172/jci115630;
RA Felix C.A., Nau M.M., Takahashi T., Mitsudomi T., Chiba I., Poplack D.G.,
RA Reaman G.H., Cole D.E., Letterio J.J., Whang-Peng J., Knutsen T.,
RA Minna J.D.;
RT "Hereditary and acquired p53 gene mutations in childhood acute
RT lymphoblastic leukemia.";
RL J. Clin. Invest. 89:640-647(1992).
RN [185]
RP VARIANTS LFS HIS-273 AND VAL-325.
RX PubMed=1565144; DOI=10.1056/nejm199205143262002;
RA Malkin D., Jolly K.W., Barbier N., Look A.T., Friend S.H., Gebhardt M.C.,
RA Andersen T.I., Boerresen A.-L., Li F.P., Garber J., Strong L.C.;
RT "Germline mutations of the p53 tumor-suppressor gene in children and young
RT adults with second malignant neoplasms.";
RL N. Engl. J. Med. 326:1309-1315(1992).
RN [186]
RP VARIANTS SPORADIC CANCERS GLN-132; SER-249; LYS-280 AND LYS-285.
RX PubMed=1694291;
RA Bartek J., Iggo R., Gannon J., Lane D.P.;
RT "Genetic and immunochemical analysis of mutant p53 in human breast cancer
RT cell lines.";
RL Oncogene 5:893-899(1990).
RN [187]
RP VARIANTS SPORADIC CANCERS PHE-241 AND HIS-273.
RX PubMed=1699228; DOI=10.1073/pnas.87.19.7555;
RA Rodrigues N.R., Rowan A., Smith M.E.F., Kerr I.B., Bodmer W.F.,
RA Gannon J.V., Lane D.P.;
RT "p53 mutations in colorectal cancer.";
RL Proc. Natl. Acad. Sci. U.S.A. 87:7555-7559(1990).
RN [188]
RP VARIANTS SPORADIC CANCER VAL-154; VAL-245; GLN-248; LEU-278 AND SER-278.
RX PubMed=2263646; DOI=10.1073/pnas.87.24.9958;
RA Hollstein M.C., Metcalf R.A., Welsh J.A., Montesano R., Harris C.C.;
RT "Frequent mutation of the p53 gene in human esophageal cancer.";
RL Proc. Natl. Acad. Sci. U.S.A. 87:9958-9961(1990).
RN [189]
RP VARIANTS SPORADIC CANCERS.
RX PubMed=1647768; DOI=10.1016/0006-291x(91)90623-f;
RA Ishioka C., Sato T., Gamoh M., Suzuki T., Shibata H., Kanamaru R.,
RA Wakui A., Yamazaki T.;
RT "Mutations of the P53 gene, including an intronic point mutation, in
RT colorectal tumors.";
RL Biochem. Biophys. Res. Commun. 177:901-906(1991).
RN [190]
RP VARIANTS SPORADIC CANCERS LEU-152; ALA-155; HIS-175; PHE-176 AND HIS-273.
RX PubMed=1868473;
RA Casson A.G., Mukhopadhyay T., Cleary K.R., Ro J.Y., Levin B., Roth J.A.;
RT "p53 gene mutations in Barrett's epithelium and esophageal cancer.";
RL Cancer Res. 51:4495-4499(1991).
RN [191]
RP VARIANTS SPORADIC CANCERS IN CHINA.
RX PubMed=1849234; DOI=10.1038/350427a0;
RA Hsu I.C., Metcalf R.A., Sun T., Welsh J.A., Wang N.J., Harris C.C.;
RT "Mutational hotspot in the p53 gene in human hepatocellular carcinomas.";
RL Nature 350:427-428(1991).
RN [192]
RP VARIANTS SPORADIC CANCERS IN SOUTH AFRICA.
RX PubMed=1672732; DOI=10.1038/350429a0;
RA Bressac B., Kew M., Wands J., Ozturk M.;
RT "Selective G to T mutations of p53 gene in hepatocellular carcinoma from
RT southern Africa.";
RL Nature 350:429-431(1991).
RN [193]
RP VARIANTS SPORADIC CANCERS PHE-176; PHE-242; CYS-245; LEU-248 AND HIS-273.
RX PubMed=1394225;
RA Somers K.D., Merrick M.A., Lopez M.E., Incognito L.S., Schechter G.L.,
RA Casey G.;
RT "Frequent p53 mutations in head and neck cancer.";
RL Cancer Res. 52:5997-6000(1992).
RN [194]
RP VARIANTS SPORADIC CANCERS.
RX PubMed=1327751; DOI=10.1002/j.1460-2075.1992.tb05487.x;
RA Crook T., Vousden K.H.;
RT "Properties of p53 mutations detected in primary and secondary cervical
RT cancers suggest mechanisms of metastasis and involvement of environmental
RT carcinogens.";
RL EMBO J. 11:3935-3940(1992).
RN [195]
RP VARIANTS SPORADIC CANCERS CYS-205; GLU-281 AND LYS-285.
RX PubMed=1459726; DOI=10.1002/ijc.2910520606;
RA Sakai E., Rikimaru K., Ueda M., Matsumoto Y., Ishii N., Enomoto S.,
RA Yamamoto H., Tsuchida N.;
RT "The p53 tumor-suppressor gene and ras oncogene mutations in oral squamous-
RT cell carcinoma.";
RL Int. J. Cancer 52:867-872(1992).
RN [196]
RP VARIANT PRO-HIS-PRO-178 INS.
RX PubMed=1303181; DOI=10.1093/hmg/1.3.207;
RA Bhatia K., Guiterrez M.I., Magrath I.T.;
RT "A novel mutation in the p53 gene in a Burkitt's lymphoma cell line.";
RL Hum. Mol. Genet. 1:207-208(1992).
RN [197]
RP VARIANTS SPORADIC CANCERS.
RX PubMed=1437144;
RA Duthu A., Debuire B., Romano J.W., Ehrhart J.C., Fiscella M., May E.,
RA Appella E., May P.;
RT "p53 mutations in Raji cells: characterization and localization relative to
RT other Burkitt's lymphomas.";
RL Oncogene 7:2161-2167(1992).
RN [198]
RP VARIANT SPORADIC CANCER THR-280.
RX PubMed=1631151; DOI=10.1073/pnas.89.14.6516;
RA Sun Y., Hegamyer G., Heng Y.-J., Hildesheim A., Chen J.-Y., Chen I.-H.,
RA Cao Y., Yao K.-T., Colburn N.H.;
RT "An infrequent point mutation of the p53 gene in human nasopharyngeal
RT carcinoma.";
RL Proc. Natl. Acad. Sci. U.S.A. 89:6516-6520(1992).
RN [199]
RP VARIANTS SPORADIC CANCERS SER-151; PRO-156; LYS-174; ARG-194; CYS-220;
RP GLN-248; LEU-248 AND HIS-273.
RX PubMed=7682763;
RA Caamano J., Zhang S.Y., Rosvold E.A., Bauer B., Klein-Szanto A.J.P.;
RT "p53 alterations in human squamous cell carcinomas and carcinoma cell
RT lines.";
RL Am. J. Pathol. 142:1131-1139(1993).
RN [200]
RP VARIANTS SPORADIC CANCERS.
RX PubMed=8402617;
RA Boyle J.O., Hakim J., Koch W., van der Riet P., Hruban R.H., Roa R.A.,
RA Correo R., Eby Y.J., Ruppert J.M., Sidransky D.;
RT "The incidence of p53 mutations increases with progression of head and neck
RT cancer.";
RL Cancer Res. 53:4477-4480(1993).
RN [201]
RP VARIANTS SPORADIC CANCERS.
RX PubMed=8336944;
RA Hamelin R., Jego N., Laurent-Puig P., Vidaud M., Thomas G.;
RT "Efficient screening of p53 mutations by denaturing gradient gel
RT electrophoresis in colorectal tumors.";
RL Oncogene 8:2213-2220(1993).
RN [202]
RP VARIANTS, AND INVOLVEMENT IN LFL.
RX PubMed=8118819;
RA Birch J.M., Hartley A.L., Tricker K.J., Prosser J., Condie A., Kelsey A.M.,
RA Harris M., Jones P.H., Binchy A., Crowther D., Craft A.W., Eden O.B.,
RA Evans D.G.R., Thompson E., Mann J.R., Martin J., Mitchell E.L.D.,
RA Santibanez-Koref M.F.;
RT "Prevalence and diversity of constitutional mutations in the p53 gene among
RT 21 Li-Fraumeni families.";
RL Cancer Res. 54:1298-1304(1994).
RN [203]
RP CHARACTERIZATION OF VARIANT ALA-143.
RX PubMed=8013454; DOI=10.1002/j.1460-2075.1994.tb06543.x;
RA Zhang W., Guo X.-Y., Hu G.-Y., Liu W.-B., Shay J.W., Deisseroth A.B.;
RT "A temperature-sensitive mutant of human p53.";
RL EMBO J. 13:2535-2544(1994).
RN [204]
RP VARIANTS LFS HIS-175; ARG-193; GLN-248; CYS-273 AND TYR-275.
RX PubMed=7887414;
RA Frebourg T., Barbier N., Yan Y.-X., Garber J.E., Dreyfus M.,
RA Fraumeni J.F. Jr., Li F.P., Friend S.H.;
RT "Germ-line p53 mutations in 15 families with Li-Fraumeni syndrome.";
RL Am. J. Hum. Genet. 56:608-615(1995).
RN [205]
RP VARIANTS, AND INVOLVEMENT IN LFL.
RX PubMed=8718514;
RA Eeles R.A.;
RT "Germline mutations in the TP53 gene.";
RL Cancer Surv. 25:101-124(1995).
RN [206]
RP VARIANT LFS HIS-175.
RX PubMed=8825920; DOI=10.1136/jmg.32.12.942;
RA Varley J.M., McGrown G., Thorncroft M., Tricker K.J., Teare M.D.,
RA Santibanez-Koref M.F., Houlston R.S., Martin J., Birch J.M., Evans D.G.R.;
RT "An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175
RT mutation in TP53.";
RL J. Med. Genet. 32:942-945(1995).
RN [207]
RP VARIANTS SPORADIC CANCERS PHE-176; SER-245; TRP-248; TRP-282 AND GLN-286.
RX PubMed=8829627;
RX DOI=10.1002/(sici)1098-1004(1996)7:2<109::aid-humu4>3.0.co;2-7;
RA Audrezet M.-P., Robaszkiewicz M., Mercier B., Nousbaum J.-B., Hardy E.,
RA Bail J.-P., Volant A., Lozac'H P., Gouerou H., Ferec C.;
RT "Molecular analysis of the TP53 gene in Barrett's adenocarcinoma.";
RL Hum. Mutat. 7:109-113(1996).
RN [208]
RP VARIANTS SPORADIC CANCERS.
RX PubMed=9101296;
RX DOI=10.1002/(sici)1098-1004(1997)9:4<348::aid-humu8>3.0.co;2-1;
RA Guldberg P., Nedergaard T., Nielsen H.J., Olsen A.C., Ahrenkiel V.,
RA Zeuthen J.;
RT "Single-step DGGE-based mutation scanning of the p53 gene: application to
RT genetic diagnosis of colorectal cancer.";
RL Hum. Mutat. 9:348-355(1997).
RN [209]
RP VARIANT SPORADIC CANCER ILE-157.
RX PubMed=9419979; DOI=10.1038/sj.onc.1201668;
RA Miyaki M., Nishio J., Konishi M., Kikuchi-Yanoshita R., Tanaka K.,
RA Muraoka M., Nagato M., Chong J.-M., Koike M., Terada T., Kawahara Y.,
RA Fukutome A., Tomiyama J., Chuganji Y., Momoi M., Utsunomiya J.;
RT "Drastic genetic instability of tumors and normal tissues in Turcot
RT syndrome.";
RL Oncogene 15:2877-2881(1997).
RN [210]
RP VARIANTS SER-152; ILE-169; PHE-176; THR-195; CYS-220; ILE-230; CYS-273 AND
RP SER-278.
RX PubMed=9450901;
RX DOI=10.1002/(sici)1098-1004(1998)11:1<39::aid-humu6>3.0.co;2-g;
RA van Rensburg E.J., Engelbrecht S., van Heerden W.F.P., Kotze M.J.,
RA Raubenheimer E.J.;
RT "Detection of p53 gene mutations in oral squamous cell carcinomas of a
RT black African population sample.";
RL Hum. Mutat. 11:39-44(1998).
RN [211]
RP VARIANT NON-CLASSICAL LFS CYS-337.
RX PubMed=9452042; DOI=10.1002/humu.1380110121;
RA Luca J.W., Strong L.C., Hansen M.F.;
RT "A germline missense mutation R337C in exon 10 of the human p53 gene.";
RL Hum. Mutat. Suppl. 1:S58-S61(1998).
RN [212]
RP VARIANT LFS ILE-292.
RX PubMed=10484981; DOI=10.1016/s0165-4608(98)00276-3;
RA Gueran S., Tunca Y., Imirzalioglu N.;
RT "Hereditary TP53 codon 292 and somatic P16INK4A codon 94 mutations in a Li-
RT Fraumeni syndrome family.";
RL Cancer Genet. Cytogenet. 113:145-151(1999).
RN [213]
RP VARIANTS.
RX PubMed=10549356; DOI=10.1016/s0065-230x(08)60785-x;
RA Hainaut P., Hollstein M.;
RT "p53 and human cancer: the first ten thousand mutations.";
RL Adv. Cancer Res. 77:81-137(2000).
RN [214]
RP VARIANT ADCC HIS-337.
RX PubMed=11481490; DOI=10.1073/pnas.161479898;
RA Ribeiro R.C., Sandrini F., Figueiredo B., Zambetti G.P., Michalkiewicz E.,
RA Lafferty A.R., DeLacerda L., Rabin M., Cadwell C., Sampaio G., Cat I.,
RA Stratakis C.A., Sandrini R.;
RT "An inherited p53 mutation that contributes in a tissue-specific manner to
RT pediatric adrenal cortical carcinoma.";
RL Proc. Natl. Acad. Sci. U.S.A. 98:9330-9335(2001).
RN [215]
RP INVOLVEMENT IN CPP.
RX PubMed=12085209; DOI=10.1038/sj.bjc.6600269;
RA Rutherford J., Chu C.E., Duddy P.M., Charlton R.S., Chumas P., Taylor G.R.,
RA Lu X., Barnes D.M., Camplejohn R.S.;
RT "Investigations on a clinically and functionally unusual and novel germline
RT p53 mutation.";
RL Br. J. Cancer 86:1592-1596(2002).
RN [216]
RP VARIANTS [LARGE SCALE ANALYSIS] LEU-134; PHE-157; CYS-163; HIS-175;
RP ARG-177; ARG-193; PRO-213; PHE-241; PHE-242; GLN-248; TRP-248; SER-249;
RP TRP-267; LYS-271; CYS-273; HIS-273; LEU-273; SER-278; ILE-280 AND HIS-281.
RX PubMed=16959974; DOI=10.1126/science.1133427;
RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D.,
RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P.,
RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V.,
RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H.,
RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W.,
RA Velculescu V.E.;
RT "The consensus coding sequences of human breast and colorectal cancers.";
RL Science 314:268-274(2006).
RN [217]
RP VARIANTS PRO-110; VAL-113; VAL-138; CYS-163; HIS-163; THR-195; MET-216;
RP ALA-241; MET-249; SER-251; TYR-259 AND CYS-273.
RX PubMed=17224074; DOI=10.1186/bcr1637;
RA Chanock S.J., Burdett L., Yeager M., Llaca V., Langeroed A., Presswalla S.,
RA Kaaresen R., Strausberg R.L., Gerhard D.S., Kristensen V., Perou C.M.,
RA Boerresen-Dale A.-L.;
RT "Somatic sequence alterations in twenty-one genes selected by expression
RT profile analysis of breast carcinomas.";
RL Breast Cancer Res. 9:R5-R5(2007).
RN [218]
RP VARIANTS.
RX PubMed=17311302; DOI=10.1002/humu.20495;
RA Petitjean A., Mathe E., Kato S., Ishioka C., Tavtigian S.V., Hainaut P.,
RA Olivier M.;
RT "Impact of mutant p53 functional properties on TP53 mutation patterns and
RT tumor phenotype: lessons from recent developments in the IARC TP53
RT database.";
RL Hum. Mutat. 28:622-629(2007).
RN [219]
RP CHARACTERIZATION OF VARIANT SPORADIC CANCER LYS-280, UBIQUITINATION,
RP PROTEASOMAL DEGRADATION, AND INTERACTION WITH CCAR2.
RX PubMed=25732823; DOI=10.1016/j.celrep.2015.01.066;
RA Qin B., Minter-Dykhouse K., Yu J., Zhang J., Liu T., Zhang H., Lee S.,
RA Kim J., Wang L., Lou Z.;
RT "DBC1 functions as a tumor suppressor by regulating p53 stability.";
RL Cell Rep. 10:1324-1334(2015).
RN [220]
RP CHARACTERIZATION OF VARIANTS VAL-138; HIS-175; ILE-237; TRP-248 AND
RP PRO-273.
RX PubMed=27657329; DOI=10.1371/journal.pbio.1002555;
RA Guan Y., Huang D., Chen F., Gao C., Tao T., Shi H., Zhao S., Liao Z.,
RA Lo L.J., Wang Y., Chen J., Peng J.;
RT "Phosphorylation of Def Regulates Nucleolar p53 Turnover and Cell Cycle
RT Progression through Def Recruitment of Calpain3.";
RL PLoS Biol. 14:e1002555-e1002555(2016).
CC -!- FUNCTION: Acts as a tumor suppressor in many tumor types; induces
CC growth arrest or apoptosis depending on the physiological circumstances
CC and cell type (PubMed:11025664, PubMed:12524540, PubMed:12810724,
CC PubMed:15186775, PubMed:15340061, PubMed:17317671, PubMed:17349958,
CC PubMed:19556538, PubMed:20673990, PubMed:20959462, PubMed:22726440,
CC PubMed:24051492, PubMed:9840937, PubMed:24652652). Involved in cell
CC cycle regulation as a trans-activator that acts to negatively regulate
CC cell division by controlling a set of genes required for this process
CC (PubMed:11025664, PubMed:12524540, PubMed:12810724, PubMed:15186775,
CC PubMed:15340061, PubMed:17317671, PubMed:17349958, PubMed:19556538,
CC PubMed:20673990, PubMed:20959462, PubMed:22726440, PubMed:24051492,
CC PubMed:9840937, PubMed:24652652). One of the activated genes is an
CC inhibitor of cyclin-dependent kinases. Apoptosis induction seems to be
CC mediated either by stimulation of BAX and FAS antigen expression, or by
CC repression of Bcl-2 expression. Its pro-apoptotic activity is activated
CC via its interaction with PPP1R13B/ASPP1 or TP53BP2/ASPP2
CC (PubMed:12524540). However, this activity is inhibited when the
CC interaction with PPP1R13B/ASPP1 or TP53BP2/ASPP2 is displaced by
CC PPP1R13L/iASPP (PubMed:12524540). In cooperation with mitochondrial
CC PPIF is involved in activating oxidative stress-induced necrosis; the
CC function is largely independent of transcription. Induces the
CC transcription of long intergenic non-coding RNA p21 (lincRNA-p21) and
CC lincRNA-Mkln1. LincRNA-p21 participates in TP53-dependent
CC transcriptional repression leading to apoptosis and seems to have an
CC effect on cell-cycle regulation. Implicated in Notch signaling cross-
CC over. Prevents CDK7 kinase activity when associated to CAK complex in
CC response to DNA damage, thus stopping cell cycle progression. Isoform 2
CC enhances the transactivation activity of isoform 1 from some but not
CC all TP53-inducible promoters. Isoform 4 suppresses transactivation
CC activity and impairs growth suppression mediated by isoform 1. Isoform
CC 7 inhibits isoform 1-mediated apoptosis. Regulates the circadian clock
CC by repressing CLOCK-ARNTL/BMAL1-mediated transcriptional activation of
CC PER2 (PubMed:24051492). {ECO:0000269|PubMed:11025664,
CC ECO:0000269|PubMed:12524540, ECO:0000269|PubMed:12810724,
CC ECO:0000269|PubMed:15186775, ECO:0000269|PubMed:15340061,
CC ECO:0000269|PubMed:17317671, ECO:0000269|PubMed:17349958,
CC ECO:0000269|PubMed:19556538, ECO:0000269|PubMed:20673990,
CC ECO:0000269|PubMed:20959462, ECO:0000269|PubMed:22726440,
CC ECO:0000269|PubMed:24051492, ECO:0000269|PubMed:24652652,
CC ECO:0000269|PubMed:9840937}.
CC -!- COFACTOR:
CC Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
CC Evidence={ECO:0000269|PubMed:14534297, ECO:0000269|PubMed:16793544,
CC ECO:0000269|PubMed:17015838, ECO:0000269|PubMed:18650397,
CC ECO:0000269|PubMed:19515728, ECO:0000269|PubMed:20142040,
CC ECO:0000269|PubMed:20364130};
CC Note=Binds 1 zinc ion per subunit. {ECO:0000269|PubMed:14534297,
CC ECO:0000269|PubMed:16793544, ECO:0000269|PubMed:17015838,
CC ECO:0000269|PubMed:18650397, ECO:0000269|PubMed:19515728,
CC ECO:0000269|PubMed:20142040, ECO:0000269|PubMed:20364130};
CC -!- SUBUNIT: Forms homodimers and homotetramers (PubMed:19011621). Binds
CC DNA as a homotetramer. Interacts with AXIN1. Probably part of a complex
CC consisting of TP53, HIPK2 and AXIN1 (By similarity). Interacts with
CC histone acetyltransferases EP300 and methyltransferases HRMT1L2 and
CC CARM1, and recruits them to promoters. Interacts (via C-terminus) with
CC TAF1; when TAF1 is part of the TFIID complex. Interacts with ING4; this
CC interaction may be indirect. Found in a complex with CABLES1 and TP73.
CC Interacts with HIPK1, HIPK2, and TP53INP1. Interacts with WWOX. May
CC interact with HCV core protein. Interacts with USP7 and SYVN1.
CC Interacts with HSP90AB1. Interacts with CHD8; leading to recruit
CC histone H1 and prevent transactivation activity (By similarity).
CC Interacts with ARMC10, CDKN2AIP, NUAK1, STK11/LKB1, UHRF2 and E4F1.
CC Interacts with YWHAZ; the interaction enhances TP53 transcriptional
CC activity. Phosphorylation of YWHAZ on 'Ser-58' inhibits this
CC interaction. Interacts (via DNA-binding domain) with MAML1 (via N-
CC terminus). Interacts with MKRN1. Interacts with PML (via C-terminus).
CC Interacts with MDM2; leading to ubiquitination and proteasomal
CC degradation of TP53. Directly interacts with FBXO42; leading to
CC ubiquitination and degradation of TP53. Interacts (phosphorylated at
CC Ser-15 by ATM) with the phosphatase PP2A-PPP2R5C holoenzyme; regulates
CC stress-induced TP53-dependent inhibition of cell proliferation.
CC Interacts with PPP2R2A. Interacts with AURKA, DAXX, BRD7 and TRIM24.
CC Interacts (when monomethylated at Lys-382) with L3MBTL1. Isoform 1
CC interacts with isoform 2 and with isoform 4. Interacts with GRK5. Binds
CC to the CAK complex (CDK7, cyclin H and MAT1) in response to DNA damage.
CC Interacts with CDK5 in neurons. Interacts with AURKB, SETD2, UHRF2 and
CC NOC2L. Interacts (via N-terminus) with PTK2/FAK1; this promotes
CC ubiquitination by MDM2. Interacts with PTK2B/PYK2; this promotes
CC ubiquitination by MDM2. Interacts with PRKCG. Interacts with PPIF; the
CC association implicates preferentially tetrameric TP53, is induced by
CC oxidative stress and is impaired by cyclosporin A (CsA). Interacts with
CC SNAI1; the interaction induces SNAI1 degradation via MDM2-mediated
CC ubiquitination and inhibits SNAI1-induced cell invasion. Interacts with
CC KAT6A. Interacts with UBC9. Interacts with ZNF385B; the interaction is
CC direct. Interacts (via DNA-binding domain) with ZNF385A; the
CC interaction is direct and enhances p53/TP53 transactivation functions
CC on cell-cycle arrest target genes, resulting in growth arrest.
CC Interacts with ANKRD2. Interacts with RFFL and RNF34; involved in
CC p53/TP53 ubiquitination. Interacts with MTA1 and COP1. Interacts with
CC CCAR2 (via N-terminus). Interacts with MORC3 (PubMed:17332504).
CC Interacts (via C-terminus) with POU4F2 isoform 1 (via C-terminus)
CC (PubMed:17145718). Interacts (via oligomerization region) with NOP53;
CC the interaction is direct and may prevent the MDM2-mediated proteasomal
CC degradation of TP53 (PubMed:22522597). Interacts with AFG1L; mediates
CC mitochondrial translocation of TP53 (PubMed:27323408). Interacts with
CC UBD (PubMed:25422469). Interacts with TAF6 isoform 1 and isoform 4
CC (PubMed:20096117). Interacts with C10orf90/FATS; the interaction
CC inhibits binding of TP53 and MDM2 (By similarity). Interacts with
CC NUPR1; interaction is stress-dependent (PubMed:18690848). Forms a
CC complex with EP300 and NUPR1; this complex binds CDKN1A promoter
CC leading to transcriptional induction of CDKN1A (PubMed:18690848).
CC Interacts with PRMT5 in response to DNA damage; the interaction is
CC TTC5/STRAP dependent (PubMed:19011621). Interacts with PPP1R13L (via
CC SH3 domain and ANK repeats); the interaction inhibits pro-apoptotic
CC activity of p53/TP53 (PubMed:12524540). Interacts with PPP1R13B/ASPP1
CC and TP53BP2/ASPP2; the interactions promotes pro-apoptotic activity
CC (PubMed:12524540). When phosphorylated at Ser-15, interacts with DDX3X
CC and gamma-tubulin (PubMed:28842590). Interacts with KAT7/HBO1; leading
CC to inhibit histone acetyltransferase activity of KAT7/HBO1
CC (PubMed:17954561). Interacts (via N-terminus) with E3 ubiquitin-protein
CC ligase MUL1; the interaction results in ubiquitination of cytoplasmic
CC TP53 at Lys-24 and subsequent proteasomal degradation
CC (PubMed:21597459). Interacts with S100A4; this interaction promotes
CC TP53 degradation (PubMed:23752197, PubMed:32442400). Interacts with
CC BANP (By similarity). Interacts with TTC5/STRAP; the interaction may
CC result in increased mitochondrial-dependent apoptosis
CC (PubMed:25168243). Interacts with NQO1; this interaction is NADH-
CC dependent, stabilizes TP53 in response to oxidative stress and protects
CC it from ubiquitin-independent degradation by the 20S proteasome.
CC {ECO:0000250|UniProtKB:P02340, ECO:0000250|UniProtKB:P10361,
CC ECO:0000269|PubMed:12524540, ECO:0000269|PubMed:12750254,
CC ECO:0000269|PubMed:12810724, ECO:0000269|PubMed:12851404,
CC ECO:0000269|PubMed:14534297, ECO:0000269|PubMed:14702041,
CC ECO:0000269|PubMed:15053879, ECO:0000269|PubMed:15109303,
CC ECO:0000269|PubMed:15136035, ECO:0000269|PubMed:15186775,
CC ECO:0000269|PubMed:15687255, ECO:0000269|PubMed:15855171,
CC ECO:0000269|PubMed:16219768, ECO:0000269|PubMed:16322561,
CC ECO:0000269|PubMed:16376338, ECO:0000269|PubMed:16377624,
CC ECO:0000269|PubMed:16402859, ECO:0000269|PubMed:16474402,
CC ECO:0000269|PubMed:16793544, ECO:0000269|PubMed:16845383,
CC ECO:0000269|PubMed:17015838, ECO:0000269|PubMed:17108107,
CC ECO:0000269|PubMed:17121812, ECO:0000269|PubMed:17145718,
CC ECO:0000269|PubMed:17170702, ECO:0000269|PubMed:17245430,
CC ECO:0000269|PubMed:17317671, ECO:0000269|PubMed:17332504,
CC ECO:0000269|PubMed:17591690, ECO:0000269|PubMed:17719541,
CC ECO:0000269|PubMed:17904127, ECO:0000269|PubMed:17954561,
CC ECO:0000269|PubMed:17967874, ECO:0000269|PubMed:18585004,
CC ECO:0000269|PubMed:18650397, ECO:0000269|PubMed:18690848,
CC ECO:0000269|PubMed:18996393, ECO:0000269|PubMed:19011621,
CC ECO:0000269|PubMed:19509332, ECO:0000269|PubMed:19515728,
CC ECO:0000269|PubMed:19536131, ECO:0000269|PubMed:19556538,
CC ECO:0000269|PubMed:19837670, ECO:0000269|PubMed:19880522,
CC ECO:0000269|PubMed:20096117, ECO:0000269|PubMed:20124405,
CC ECO:0000269|PubMed:20142040, ECO:0000269|PubMed:20228809,
CC ECO:0000269|PubMed:20364130, ECO:0000269|PubMed:20385133,
CC ECO:0000269|PubMed:20660729, ECO:0000269|PubMed:20870725,
CC ECO:0000269|PubMed:20959462, ECO:0000269|PubMed:21317932,
CC ECO:0000269|PubMed:21952639, ECO:0000269|PubMed:22214662,
CC ECO:0000269|PubMed:22522597, ECO:0000269|PubMed:22726440,
CC ECO:0000269|PubMed:22945289, ECO:0000269|PubMed:23431171,
CC ECO:0000269|PubMed:23752197, ECO:0000269|PubMed:25168243,
CC ECO:0000269|PubMed:25422469, ECO:0000269|PubMed:25732823,
CC ECO:0000269|PubMed:27323408, ECO:0000269|PubMed:28842590,
CC ECO:0000269|PubMed:32442400, ECO:0000269|PubMed:8875926,
CC ECO:0000269|PubMed:8875929, ECO:0000269|PubMed:9840937}.
CC -!- SUBUNIT: (Microbial infection) Interacts with cancer-associated/HPV E6
CC viral proteins leading to ubiquitination and degradation of TP53 giving
CC a possible model for cell growth regulation. This complex formation
CC requires an additional factor, E6-AP, which stably associates with TP53
CC in the presence of E6. {ECO:0000269|PubMed:2175676}.
CC -!- SUBUNIT: (Microbial infection) Interacts with human
CC cytomegalovirus/HHV-5 protein UL123. {ECO:0000269|PubMed:19776115}.
CC -!- SUBUNIT: (Microbial infection) Interacts (via N-terminus) with human
CC adenovirus 5 E1B-55K protein; this interaction leads to the inhibition
CC of TP53 function and/or its degradation. {ECO:0000269|PubMed:25772236}.
CC -!- SUBUNIT: (Microbial infection) Interacts with Kaposi's sarcoma-
CC associated herpesvirus/HHV-8 protein ORF45; this interaction results in
CC the cytoplasmic localization of TP53 thereby decreasing its
CC transcriptional activity. {ECO:0000269|PubMed:34523970}.
CC -!- INTERACTION:
CC P04637; Q13155: AIMP2; NbExp=6; IntAct=EBI-366083, EBI-745226;
CC P04637; O95376: ARIH2; NbExp=5; IntAct=EBI-366083, EBI-711158;
CC P04637; P49407: ARRB1; NbExp=5; IntAct=EBI-366083, EBI-743313;
CC P04637; Q9UBL3: ASH2L; NbExp=7; IntAct=EBI-366083, EBI-540797;
CC P04637; O95352-2: ATG7; NbExp=4; IntAct=EBI-366083, EBI-15980880;
CC P04637; O15169: AXIN1; NbExp=4; IntAct=EBI-366083, EBI-710484;
CC P04637; Q8N9N5: BANP; NbExp=3; IntAct=EBI-366083, EBI-744695;
CC P04637; P10415: BCL2; NbExp=5; IntAct=EBI-366083, EBI-77694;
CC P04637; Q07817-1: BCL2L1; NbExp=26; IntAct=EBI-366083, EBI-287195;
CC P04637; O14503: BHLHE40; NbExp=11; IntAct=EBI-366083, EBI-711810;
CC P04637; P51587: BRCA2; NbExp=7; IntAct=EBI-366083, EBI-79792;
CC P04637; Q9NPI1: BRD7; NbExp=9; IntAct=EBI-366083, EBI-711221;
CC P04637; Q9BX70: BTBD2; NbExp=2; IntAct=EBI-366083, EBI-710091;
CC P04637; Q9Y297: BTRC; NbExp=2; IntAct=EBI-366083, EBI-307461;
CC P04637; P55212: CASP6; NbExp=3; IntAct=EBI-366083, EBI-718729;
CC P04637; Q9BWC9: CCDC106; NbExp=3; IntAct=EBI-366083, EBI-711501;
CC P04637; P48643: CCT5; NbExp=3; IntAct=EBI-366083, EBI-355710;
CC P04637; P17676: CEBPB; NbExp=4; IntAct=EBI-366083, EBI-969696;
CC P04637; Q92793: CREBBP; NbExp=17; IntAct=EBI-366083, EBI-81215;
CC P04637; P55060: CSE1L; NbExp=5; IntAct=EBI-366083, EBI-286709;
CC P04637; Q14999: CUL7; NbExp=6; IntAct=EBI-366083, EBI-308606;
CC P04637; Q8IWT3: CUL9; NbExp=5; IntAct=EBI-366083, EBI-311123;
CC P04637; Q9P0U4: CXXC1; NbExp=7; IntAct=EBI-366083, EBI-949911;
CC P04637; Q9UER7: DAXX; NbExp=12; IntAct=EBI-366083, EBI-77321;
CC P04637; Q92841: DDX17; NbExp=3; IntAct=EBI-366083, EBI-746012;
CC P04637; P17844: DDX5; NbExp=6; IntAct=EBI-366083, EBI-351962;
CC P04637; Q9NRR4: DROSHA; NbExp=5; IntAct=EBI-366083, EBI-528367;
CC P04637; Q9BV47: DUSP26; NbExp=9; IntAct=EBI-366083, EBI-2924519;
CC P04637; O14641: DVL2; NbExp=6; IntAct=EBI-366083, EBI-740850;
CC P04637; Q09472: EP300; NbExp=21; IntAct=EBI-366083, EBI-447295;
CC P04637; P15036: ETS2; NbExp=4; IntAct=EBI-366083, EBI-1646991;
CC P04637; Q86XK2: FBXO11; NbExp=4; IntAct=EBI-366083, EBI-1047804;
CC P04637; P21333-2: FLNA; NbExp=3; IntAct=EBI-366083, EBI-9641086;
CC P04637; P51114: FXR1; NbExp=2; IntAct=EBI-366083, EBI-713291;
CC P04637; P49841: GSK3B; NbExp=3; IntAct=EBI-366083, EBI-373586;
CC P04637; P32780: GTF2H1; NbExp=12; IntAct=EBI-366083, EBI-715539;
CC P04637; Q13547: HDAC1; NbExp=7; IntAct=EBI-366083, EBI-301834;
CC P04637; Q86Z02: HIPK1; NbExp=2; IntAct=EBI-366083, EBI-692891;
CC P04637; P09429: HMGB1; NbExp=9; IntAct=EBI-366083, EBI-389432;
CC P04637; P61978: HNRNPK; NbExp=2; IntAct=EBI-366083, EBI-304185;
CC P04637; P61978-2: HNRNPK; NbExp=2; IntAct=EBI-366083, EBI-7060731;
CC P04637; P38646: HSPA9; NbExp=6; IntAct=EBI-366083, EBI-354932;
CC P04637; P04792: HSPB1; NbExp=3; IntAct=EBI-366083, EBI-352682;
CC P04637; P42858: HTT; NbExp=19; IntAct=EBI-366083, EBI-466029;
CC P04637; Q7Z6Z7: HUWE1; NbExp=3; IntAct=EBI-366083, EBI-625934;
CC P04637; Q16666-2: IFI16; NbExp=6; IntAct=EBI-366083, EBI-6273540;
CC P04637; O14920: IKBKB; NbExp=2; IntAct=EBI-366083, EBI-81266;
CC P04637; Q9UHH9: IP6K2; NbExp=4; IntAct=EBI-366083, EBI-747509;
CC P04637; Q6NYC1: JMJD6; NbExp=7; IntAct=EBI-366083, EBI-8464037;
CC P04637; Q92993: KAT5; NbExp=3; IntAct=EBI-366083, EBI-399080;
CC P04637; Q9H7Z6: KAT8; NbExp=2; IntAct=EBI-366083, EBI-896414;
CC P04637; O60341-1: KDM1A; NbExp=6; IntAct=EBI-366083, EBI-15599570;
CC P04637; Q8IZD2: KMT2E; NbExp=4; IntAct=EBI-366083, EBI-2689959;
CC P04637; P13473-2: LAMP2; NbExp=3; IntAct=EBI-366083, EBI-21591415;
CC P04637; P43356: MAGEA2B; NbExp=7; IntAct=EBI-366083, EBI-5650739;
CC P04637; Q96M61: MAGEB18; NbExp=3; IntAct=EBI-366083, EBI-741835;
CC P04637; Q9UBF1: MAGEC2; NbExp=3; IntAct=EBI-366083, EBI-5651487;
CC P04637; P46821: MAP1B; NbExp=6; IntAct=EBI-366083, EBI-764611;
CC P04637; Q15759: MAPK11; NbExp=2; IntAct=EBI-366083, EBI-298304;
CC P04637; Q8IW41: MAPKAPK5; NbExp=2; IntAct=EBI-366083, EBI-1201460;
CC P04637; Q00987: MDM2; NbExp=97; IntAct=EBI-366083, EBI-389668;
CC P04637; O15151: MDM4; NbExp=19; IntAct=EBI-366083, EBI-398437;
CC P04637; Q9UHC7: MKRN1; NbExp=8; IntAct=EBI-366083, EBI-373524;
CC P04637; O75970: MPDZ; NbExp=3; IntAct=EBI-366083, EBI-821405;
CC P04637; P04731: MT1A; NbExp=3; IntAct=EBI-366083, EBI-8045030;
CC P04637; P19338: NCL; NbExp=2; IntAct=EBI-366083, EBI-346967;
CC P04637; Q9Y618: NCOR2; NbExp=7; IntAct=EBI-366083, EBI-80830;
CC P04637; P23511: NFYA; NbExp=11; IntAct=EBI-366083, EBI-389739;
CC P04637; P25208: NFYB; NbExp=6; IntAct=EBI-366083, EBI-389728;
CC P04637; Q9Y3T9: NOC2L; NbExp=8; IntAct=EBI-366083, EBI-751547;
CC P04637; O60936: NOL3; NbExp=3; IntAct=EBI-366083, EBI-740992;
CC P04637; P06748: NPM1; NbExp=6; IntAct=EBI-366083, EBI-78579;
CC P04637; P06748-1: NPM1; NbExp=3; IntAct=EBI-366083, EBI-354150;
CC P04637; Q15466: NR0B2; NbExp=3; IntAct=EBI-366083, EBI-3910729;
CC P04637; P22736: NR4A1; NbExp=6; IntAct=EBI-366083, EBI-721550;
CC P04637; O43847: NRDC; NbExp=6; IntAct=EBI-366083, EBI-2371631;
CC P04637; O60285: NUAK1; NbExp=5; IntAct=EBI-366083, EBI-1046789;
CC P04637; P49757: NUMB; NbExp=5; IntAct=EBI-366083, EBI-915016;
CC P04637; Q96FW1: OTUB1; NbExp=8; IntAct=EBI-366083, EBI-1058491;
CC P04637; Q8TEW0: PARD3; NbExp=3; IntAct=EBI-366083, EBI-81968;
CC P04637; P09874: PARP1; NbExp=3; IntAct=EBI-366083, EBI-355676;
CC P04637; Q96KB5: PBK; NbExp=7; IntAct=EBI-366083, EBI-536853;
CC P04637; Q7Z412: PEX26; NbExp=3; IntAct=EBI-366083, EBI-752057;
CC P04637; P35232: PHB; NbExp=6; IntAct=EBI-366083, EBI-354213;
CC P04637; O75925: PIAS1; NbExp=4; IntAct=EBI-366083, EBI-629434;
CC P04637; Q8N2W9: PIAS4; NbExp=2; IntAct=EBI-366083, EBI-473160;
CC P04637; Q92569: PIK3R3; NbExp=5; IntAct=EBI-366083, EBI-79893;
CC P04637; Q13526: PIN1; NbExp=12; IntAct=EBI-366083, EBI-714158;
CC P04637; P53350: PLK1; NbExp=6; IntAct=EBI-366083, EBI-476768;
CC P04637; P29590: PML; NbExp=4; IntAct=EBI-366083, EBI-295890;
CC P04637; D3DTS7: PMP22; NbExp=3; IntAct=EBI-366083, EBI-25882629;
CC P04637; P30405: PPIF; NbExp=4; IntAct=EBI-366083, EBI-5544229;
CC P04637; P36873-1: PPP1CC; NbExp=2; IntAct=EBI-366083, EBI-356289;
CC P04637; Q8WUF5: PPP1R13L; NbExp=12; IntAct=EBI-366083, EBI-5550163;
CC P04637; P30153: PPP2R1A; NbExp=3; IntAct=EBI-366083, EBI-302388;
CC P04637; Q13362: PPP2R5C; NbExp=4; IntAct=EBI-366083, EBI-1266156;
CC P04637; Q05655: PRKCD; NbExp=4; IntAct=EBI-366083, EBI-704279;
CC P04637; P61289: PSME3; NbExp=7; IntAct=EBI-366083, EBI-355546;
CC P04637; Q05397: PTK2; NbExp=13; IntAct=EBI-366083, EBI-702142;
CC P04637; Q06609: RAD51; NbExp=2; IntAct=EBI-366083, EBI-297202;
CC P04637; Q06330: RBPJ; NbExp=5; IntAct=EBI-366083, EBI-632552;
CC P04637; Q96PM5: RCHY1; NbExp=13; IntAct=EBI-366083, EBI-947779;
CC P04637; Q6PCD5: RFWD3; NbExp=5; IntAct=EBI-366083, EBI-2129159;
CC P04637; Q06587: RING1; NbExp=7; IntAct=EBI-366083, EBI-752313;
CC P04637; P23396: RPS3; NbExp=4; IntAct=EBI-366083, EBI-351193;
CC P04637; Q9Y265: RUVBL1; NbExp=10; IntAct=EBI-366083, EBI-353675;
CC P04637; Q8N488: RYBP; NbExp=4; IntAct=EBI-366083, EBI-752324;
CC P04637; P23297: S100A1; NbExp=3; IntAct=EBI-366083, EBI-743686;
CC P04637; P31949: S100A11; NbExp=2; IntAct=EBI-366083, EBI-701862;
CC P04637; P29034: S100A2; NbExp=4; IntAct=EBI-366083, EBI-752230;
CC P04637; P33764: S100A3; NbExp=2; IntAct=EBI-366083, EBI-1044747;
CC P04637; P26447: S100A4; NbExp=9; IntAct=EBI-366083, EBI-717058;
CC P04637; P33763: S100A5; NbExp=2; IntAct=EBI-366083, EBI-7211732;
CC P04637; P06703: S100A6; NbExp=3; IntAct=EBI-366083, EBI-352877;
CC P04637; P04271: S100B; NbExp=3; IntAct=EBI-366083, EBI-458391;
CC P04637; P25815: S100P; NbExp=2; IntAct=EBI-366083, EBI-743700;
CC P04637; Q15424: SAFB; NbExp=5; IntAct=EBI-366083, EBI-348298;
CC P04637; Q8WTS6: SETD7; NbExp=11; IntAct=EBI-366083, EBI-1268586;
CC P04637; P31947: SFN; NbExp=4; IntAct=EBI-366083, EBI-476295;
CC P04637; Q96ST3: SIN3A; NbExp=2; IntAct=EBI-366083, EBI-347218;
CC P04637; Q96EB6: SIRT1; NbExp=18; IntAct=EBI-366083, EBI-1802965;
CC P04637; Q15796: SMAD2; NbExp=7; IntAct=EBI-366083, EBI-1040141;
CC P04637; Q9NRG4: SMYD2; NbExp=6; IntAct=EBI-366083, EBI-1055671;
CC P04637; O95863: SNAI1; NbExp=2; IntAct=EBI-366083, EBI-1045459;
CC P04637; Q06945: SOX4; NbExp=4; IntAct=EBI-366083, EBI-6672525;
CC P04637; P08047: SP1; NbExp=3; IntAct=EBI-366083, EBI-298336;
CC P04637; Q12772: SREBF2; NbExp=3; IntAct=EBI-366083, EBI-465059;
CC P04637; Q96SB4: SRPK1; NbExp=3; IntAct=EBI-366083, EBI-539478;
CC P04637; P31948: STIP1; NbExp=4; IntAct=EBI-366083, EBI-1054052;
CC P04637; P63165: SUMO1; NbExp=3; IntAct=EBI-366083, EBI-80140;
CC P04637; Q86TM6: SYVN1; NbExp=5; IntAct=EBI-366083, EBI-947849;
CC P04637; P20226: TBP; NbExp=2; IntAct=EBI-366083, EBI-355371;
CC P04637; P15884: TCF4; NbExp=2; IntAct=EBI-366083, EBI-533224;
CC P04637; Q96GM8: TOE1; NbExp=3; IntAct=EBI-366083, EBI-717460;
CC P04637; P04637: TP53; NbExp=33; IntAct=EBI-366083, EBI-366083;
CC P04637; Q12888: TP53BP1; NbExp=6; IntAct=EBI-366083, EBI-396540;
CC P04637; Q12888-1: TP53BP1; NbExp=17; IntAct=EBI-366083, EBI-8022649;
CC P04637; Q13625: TP53BP2; NbExp=9; IntAct=EBI-366083, EBI-77642;
CC P04637; Q9H3D4: TP63; NbExp=5; IntAct=EBI-366083, EBI-2337775;
CC P04637; P13693: TPT1; NbExp=7; IntAct=EBI-366083, EBI-1783169;
CC P04637; O15164: TRIM24; NbExp=3; IntAct=EBI-366083, EBI-2130378;
CC P04637; Q15672: TWIST1; NbExp=10; IntAct=EBI-366083, EBI-1797287;
CC P04637; P0CG48: UBC; NbExp=15; IntAct=EBI-366083, EBI-3390054;
CC P04637; P63279: UBE2I; NbExp=3; IntAct=EBI-366083, EBI-80168;
CC P04637; Q05086: UBE3A; NbExp=6; IntAct=EBI-366083, EBI-954357;
CC P04637; P09936: UCHL1; NbExp=3; IntAct=EBI-366083, EBI-714860;
CC P04637; Q96PU4: UHRF2; NbExp=3; IntAct=EBI-366083, EBI-625304;
CC P04637; Q9H9J4: USP42; NbExp=2; IntAct=EBI-366083, EBI-2513638;
CC P04637; Q9H9J4-2: USP42; NbExp=2; IntAct=EBI-366083, EBI-9118105;
CC P04637; Q93009: USP7; NbExp=18; IntAct=EBI-366083, EBI-302474;
CC P04637; P11473: VDR; NbExp=6; IntAct=EBI-366083, EBI-286357;
CC P04637; Q99986: VRK1; NbExp=11; IntAct=EBI-366083, EBI-1769146;
CC P04637; Q14191: WRN; NbExp=5; IntAct=EBI-366083, EBI-368417;
CC P04637; Q9NZC7: WWOX; NbExp=2; IntAct=EBI-366083, EBI-4320739;
CC P04637; O14980: XPO1; NbExp=3; IntAct=EBI-366083, EBI-355867;
CC P04637; P12956: XRCC6; NbExp=2; IntAct=EBI-366083, EBI-353208;
CC P04637; P61981: YWHAG; NbExp=5; IntAct=EBI-366083, EBI-359832;
CC P04637; P63104: YWHAZ; NbExp=2; IntAct=EBI-366083, EBI-347088;
CC P04637; Q8TAQ5: ZNF420; NbExp=4; IntAct=EBI-366083, EBI-3923307;
CC P04637; Q7L7W2; NbExp=2; IntAct=EBI-366083, EBI-7210801;
CC P04637; P29066: Arrb1; Xeno; NbExp=3; IntAct=EBI-366083, EBI-4303019;
CC P04637; Q9ESJ1: Cables1; Xeno; NbExp=3; IntAct=EBI-366083, EBI-604411;
CC P04637; P45481: Crebbp; Xeno; NbExp=10; IntAct=EBI-366083, EBI-296306;
CC P04637; P03126: E6; Xeno; NbExp=5; IntAct=EBI-366083, EBI-1177242;
CC P04637; P06463: E6; Xeno; NbExp=3; IntAct=EBI-366083, EBI-1186926;
CC P04637; P02829: HSP82; Xeno; NbExp=8; IntAct=EBI-366083, EBI-8659;
CC P04637; Q08619: Ifi205b; Xeno; NbExp=2; IntAct=EBI-366083, EBI-8064290;
CC P04637; P89055: NSP1; Xeno; NbExp=6; IntAct=EBI-366083, EBI-9522973;
CC P04637; Q923E4: Sirt1; Xeno; NbExp=4; IntAct=EBI-366083, EBI-1802585;
CC P04637; Q8R5A0: Smyd2; Xeno; NbExp=3; IntAct=EBI-366083, EBI-15612527;
CC P04637; P32776: TFB1; Xeno; NbExp=7; IntAct=EBI-366083, EBI-19146;
CC P04637; O88898: Tp63; Xeno; NbExp=2; IntAct=EBI-366083, EBI-2338025;
CC P04637; P26687: Twist1; Xeno; NbExp=4; IntAct=EBI-366083, EBI-6123119;
CC P04637; Q9PST7: znf585b.S; Xeno; NbExp=3; IntAct=EBI-366083, EBI-1782562;
CC P04637; P03070; Xeno; NbExp=22; IntAct=EBI-366083, EBI-617698;
CC P04637; PRO_0000037536 [P26663]; Xeno; NbExp=9; IntAct=EBI-366083, EBI-6838571;
CC P04637; Q8QW27; Xeno; NbExp=2; IntAct=EBI-366083, EBI-6863726;
CC P04637-1; P17844: DDX5; NbExp=2; IntAct=EBI-3895849, EBI-351962;
CC P04637-7; P17844: DDX5; NbExp=2; IntAct=EBI-3895873, EBI-351962;
CC -!- SUBCELLULAR LOCATION: Cytoplasm {ECO:0000269|PubMed:15340061,
CC ECO:0000269|PubMed:17170702, ECO:0000269|PubMed:19011621,
CC ECO:0000269|PubMed:21597459, ECO:0000269|PubMed:22726440}. Nucleus
CC {ECO:0000269|PubMed:15340061, ECO:0000269|PubMed:17170702,
CC ECO:0000269|PubMed:17591690, ECO:0000269|PubMed:18206965,
CC ECO:0000269|PubMed:19011621, ECO:0000269|PubMed:21597459}. Nucleus, PML
CC body {ECO:0000269|PubMed:11025664, ECO:0000269|PubMed:12810724}.
CC Endoplasmic reticulum {ECO:0000269|PubMed:17170702}. Mitochondrion
CC matrix {ECO:0000269|PubMed:22726440, ECO:0000269|PubMed:25168243,
CC ECO:0000269|PubMed:27323408}. Cytoplasm, cytoskeleton, microtubule
CC organizing center, centrosome {ECO:0000269|PubMed:28842590}.
CC Note=Recruited into PML bodies together with CHEK2 (PubMed:12810724).
CC Translocates to mitochondria upon oxidative stress (PubMed:22726440).
CC Translocates to mitochondria in response to mitomycin C treatment
CC (PubMed:27323408). {ECO:0000269|PubMed:12810724,
CC ECO:0000269|PubMed:22726440, ECO:0000269|PubMed:27323408}.
CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Nucleus
CC {ECO:0000269|PubMed:23752197}. Cytoplasm. Note=Predominantly nuclear
CC but localizes to the cytoplasm when expressed with isoform 4.
CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Nucleus. Cytoplasm. Note=Localized
CC mainly in the nucleus with minor staining in the cytoplasm.
CC -!- SUBCELLULAR LOCATION: [Isoform 3]: Nucleus. Cytoplasm. Note=Localized
CC in the nucleus in most cells but found in the cytoplasm in some cells.
CC -!- SUBCELLULAR LOCATION: [Isoform 4]: Nucleus. Cytoplasm.
CC Note=Predominantly nuclear but translocates to the cytoplasm following
CC cell stress.
CC -!- SUBCELLULAR LOCATION: [Isoform 7]: Nucleus. Cytoplasm. Note=Localized
CC mainly in the nucleus with minor staining in the cytoplasm.
CC -!- SUBCELLULAR LOCATION: [Isoform 8]: Nucleus. Cytoplasm. Note=Localized
CC in both nucleus and cytoplasm in most cells. In some cells, forms foci
CC in the nucleus that are different from nucleoli.
CC -!- SUBCELLULAR LOCATION: [Isoform 9]: Cytoplasm.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative promoter usage, Alternative splicing; Named isoforms=9;
CC Name=1; Synonyms=p53, p53alpha;
CC IsoId=P04637-1; Sequence=Displayed;
CC Name=2; Synonyms=I9RET, p53beta;
CC IsoId=P04637-2; Sequence=VSP_006535, VSP_006536;
CC Name=3; Synonyms=p53gamma;
CC IsoId=P04637-3; Sequence=VSP_040560, VSP_040561;
CC Name=4; Synonyms=Del40-p53, Del40-p53alpha, p47;
CC IsoId=P04637-4; Sequence=VSP_040832;
CC Name=5; Synonyms=Del40-p53beta;
CC IsoId=P04637-5; Sequence=VSP_040832, VSP_006535, VSP_006536;
CC Name=6; Synonyms=Del40-p53gamma;
CC IsoId=P04637-6; Sequence=VSP_040832, VSP_040560, VSP_040561;
CC Name=7; Synonyms=Del133-p53, Del133-p53alpha;
CC IsoId=P04637-7; Sequence=VSP_040833;
CC Name=8; Synonyms=Del133-p53beta;
CC IsoId=P04637-8; Sequence=VSP_040833, VSP_006535, VSP_006536;
CC Name=9; Synonyms=Del133-p53gamma;
CC IsoId=P04637-9; Sequence=VSP_040833, VSP_040560, VSP_040561;
CC -!- TISSUE SPECIFICITY: Ubiquitous. Isoforms are expressed in a wide range
CC of normal tissues but in a tissue-dependent manner. Isoform 2 is
CC expressed in most normal tissues but is not detected in brain, lung,
CC prostate, muscle, fetal brain, spinal cord and fetal liver. Isoform 3
CC is expressed in most normal tissues but is not detected in lung,
CC spleen, testis, fetal brain, spinal cord and fetal liver. Isoform 7 is
CC expressed in most normal tissues but is not detected in prostate,
CC uterus, skeletal muscle and breast. Isoform 8 is detected only in
CC colon, bone marrow, testis, fetal brain and intestine. Isoform 9 is
CC expressed in most normal tissues but is not detected in brain, heart,
CC lung, fetal liver, salivary gland, breast or intestine.
CC {ECO:0000269|PubMed:16131611}.
CC -!- INDUCTION: Up-regulated in response to DNA damage. Isoform 2 is not
CC induced in tumor cells in response to stress.
CC {ECO:0000269|PubMed:10570149, ECO:0000269|PubMed:16131611}.
CC -!- DOMAIN: The nuclear export signal acts as a transcriptional repression
CC domain. The TADI and TADII motifs (residues 17 to 25 and 48 to 56)
CC correspond both to 9aaTAD motifs which are transactivation domains
CC present in a large number of yeast and animal transcription factors.
CC {ECO:0000269|PubMed:17467953}.
CC -!- PTM: Acetylation of Lys-382 by CREBBP enhances transcriptional activity
CC (PubMed:10656795, PubMed:15448695, PubMed:20228809, PubMed:23431171).
CC Acetylation of Lys-382 by EP300 (PubMed:10656795, PubMed:15448695,
CC PubMed:20228809, PubMed:23431171). Deacetylation of Lys-382 by SIRT1
CC impairs its ability to induce proapoptotic program and modulate cell
CC senescence (PubMed:10656795, PubMed:15448695, PubMed:20228809,
CC PubMed:23431171). Deacetylation by SIRT2 impairs its ability to induce
CC transcription activation in a AKT-dependent manner (PubMed:10656795,
CC PubMed:15448695, PubMed:20228809, PubMed:23431171). Acetylation at Lys-
CC 381 increases stability (PubMed:29474172). Deacetylation at Lys-381 by
CC SIRT6 decreases its stability, thereby regulating cell senescence
CC (PubMed:29474172). {ECO:0000269|PubMed:10656795,
CC ECO:0000269|PubMed:15448695, ECO:0000269|PubMed:20228809,
CC ECO:0000269|PubMed:23431171, ECO:0000269|PubMed:29474172}.
CC -!- PTM: Phosphorylation on Ser residues mediates transcriptional
CC activation. Phosphorylated by HIPK1 (By similarity). Phosphorylation at
CC Ser-9 by HIPK4 increases repression activity on BIRC5 promoter.
CC Phosphorylated on Thr-18 by VRK1. Phosphorylated on Ser-20 by CHEK2 in
CC response to DNA damage, which prevents ubiquitination by MDM2.
CC Phosphorylated on Ser-20 by PLK3 in response to reactive oxygen species
CC (ROS), promoting p53/TP53-mediated apoptosis. Phosphorylated on Thr-55
CC by TAF1, which promotes MDM2-mediated degradation. Phosphorylated on
CC Ser-33 by CDK7 in a CAK complex in response to DNA damage.
CC Phosphorylated on Ser-46 by HIPK2 upon UV irradiation. Phosphorylation
CC on Ser-46 is required for acetylation by CREBBP. Phosphorylated on Ser-
CC 392 following UV but not gamma irradiation. Phosphorylated by NUAK1 at
CC Ser-15 and Ser-392; was initially thought to be mediated by STK11/LKB1
CC but it was later shown that it is indirect and that STK11/LKB1-
CC dependent phosphorylation is probably mediated by downstream NUAK1
CC (PubMed:21317932). It is unclear whether AMP directly mediates
CC phosphorylation at Ser-15. Phosphorylated on Thr-18 by isoform 1 and
CC isoform 2 of VRK2. Phosphorylation on Thr-18 by isoform 2 of VRK2
CC results in a reduction in ubiquitination by MDM2 and an increase in
CC acetylation by EP300. Stabilized by CDK5-mediated phosphorylation in
CC response to genotoxic and oxidative stresses at Ser-15, Ser-33 and Ser-
CC 46, leading to accumulation of p53/TP53, particularly in the nucleus,
CC thus inducing the transactivation of p53/TP53 target genes.
CC Phosphorylated by DYRK2 at Ser-46 in response to genotoxic stress.
CC Phosphorylated at Ser-315 and Ser-392 by CDK2 in response to DNA-
CC damage. Phosphorylation at Ser-15 is required for interaction with
CC DDX3X and gamma-tubulin (PubMed:28842590). {ECO:0000250,
CC ECO:0000269|PubMed:10570149, ECO:0000269|PubMed:10606744,
CC ECO:0000269|PubMed:10884347, ECO:0000269|PubMed:10951572,
CC ECO:0000269|PubMed:11239457, ECO:0000269|PubMed:11447225,
CC ECO:0000269|PubMed:11546806, ECO:0000269|PubMed:11551930,
CC ECO:0000269|PubMed:11554766, ECO:0000269|PubMed:11740489,
CC ECO:0000269|PubMed:11780126, ECO:0000269|PubMed:12810724,
CC ECO:0000269|PubMed:14702041, ECO:0000269|PubMed:15053879,
CC ECO:0000269|PubMed:15866171, ECO:0000269|PubMed:16377624,
CC ECO:0000269|PubMed:16704422, ECO:0000269|PubMed:1705009,
CC ECO:0000269|PubMed:17108107, ECO:0000269|PubMed:17254968,
CC ECO:0000269|PubMed:17349958, ECO:0000269|PubMed:17591690,
CC ECO:0000269|PubMed:17967874, ECO:0000269|PubMed:18022393,
CC ECO:0000269|PubMed:20041275, ECO:0000269|PubMed:20124405,
CC ECO:0000269|PubMed:20959462, ECO:0000269|PubMed:21317932,
CC ECO:0000269|PubMed:2141171, ECO:0000269|PubMed:22214662,
CC ECO:0000269|PubMed:28842590, ECO:0000269|PubMed:9372954}.
CC -!- PTM: Dephosphorylated by PP2A-PPP2R5C holoenzyme at Thr-55. SV40 small
CC T antigen inhibits the dephosphorylation by the AC form of PP2A.
CC -!- PTM: May be O-glycosylated in the C-terminal basic region. Studied in
CC EB-1 cell line. {ECO:0000269|PubMed:8632915}.
CC -!- PTM: Ubiquitinated by MDM2 and SYVN1, which leads to proteasomal
CC degradation (PubMed:10722742, PubMed:12810724, PubMed:15340061,
CC PubMed:17170702, PubMed:19880522). Ubiquitinated by RFWD3, which works
CC in cooperation with MDM2 and may catalyze the formation of short
CC polyubiquitin chains on p53/TP53 that are not targeted to the
CC proteasome (PubMed:10722742, PubMed:12810724, PubMed:20173098).
CC Ubiquitinated by MKRN1 at Lys-291 and Lys-292, which leads to
CC proteasomal degradation (PubMed:19536131). Deubiquitinated by USP10,
CC leading to its stabilization (PubMed:20096447). Ubiquitinated by
CC TRIM24, RFFL, RNF34 and RNF125, which leads to proteasomal degradation
CC (PubMed:19556538). Ubiquitination by TOPORS induces degradation
CC (PubMed:19473992). Deubiquitination by USP7, leading to stabilization
CC (PubMed:15053880). Isoform 4 is monoubiquitinated in an MDM2-
CC independent manner (PubMed:15340061). Ubiquitinated by COP1, which
CC leads to proteasomal degradation (PubMed:19837670). Ubiquitination and
CC subsequent proteasomal degradation is negatively regulated by CCAR2
CC (PubMed:25732823). Polyubiquitinated by C10orf90/FATS,
CC polyubiquitination is 'Lys-48'-linkage independent and non-proteolytic,
CC leading to TP53 stabilization (By similarity). Polyubiquitinated by
CC MUL1 at Lys-24 which leads to proteasomal degradation
CC (PubMed:21597459). {ECO:0000250|UniProtKB:P02340,
CC ECO:0000269|PubMed:10722742, ECO:0000269|PubMed:12810724,
CC ECO:0000269|PubMed:15053880, ECO:0000269|PubMed:15340061,
CC ECO:0000269|PubMed:17170702, ECO:0000269|PubMed:18206965,
CC ECO:0000269|PubMed:19473992, ECO:0000269|PubMed:19536131,
CC ECO:0000269|PubMed:19556538, ECO:0000269|PubMed:19837670,
CC ECO:0000269|PubMed:19880522, ECO:0000269|PubMed:20096447,
CC ECO:0000269|PubMed:20173098, ECO:0000269|PubMed:21597459,
CC ECO:0000269|PubMed:25591766, ECO:0000269|PubMed:25732823}.
CC -!- PTM: Monomethylated at Lys-372 by SETD7, leading to stabilization and
CC increased transcriptional activation (PubMed:15525938,
CC PubMed:16415881). Monomethylated at Lys-370 by SMYD2, leading to
CC decreased DNA-binding activity and subsequent transcriptional
CC regulation activity (PubMed:17108971). Lys-372 monomethylation prevents
CC interaction with SMYD2 and subsequent monomethylation at Lys-370
CC (PubMed:17108971). Dimethylated at Lys-373 by EHMT1 and EHMT2
CC (PubMed:20118233). Monomethylated at Lys-382 by KMT5A, promoting
CC interaction with L3MBTL1 and leading to repress transcriptional
CC activity (PubMed:17707234). Dimethylation at Lys-370 and Lys-382
CC diminishes p53 ubiquitination, through stabilizing association with the
CC methyl reader PHF20 (PubMed:22864287). Demethylation of dimethylated
CC Lys-370 by KDM1A prevents interaction with TP53BP1 and represses TP53-
CC mediated transcriptional activation (PubMed:17805299). Monomethylated
CC at Arg-333 and dimethylated at Arg-335 and Arg-337 by PRMT5;
CC methylation is increased after DNA damage and might possibly affect
CC TP53 target gene specificity (PubMed:19011621).
CC {ECO:0000269|PubMed:15525938, ECO:0000269|PubMed:16415881,
CC ECO:0000269|PubMed:17108971, ECO:0000269|PubMed:17707234,
CC ECO:0000269|PubMed:17805299, ECO:0000269|PubMed:19011621,
CC ECO:0000269|PubMed:20118233, ECO:0000269|PubMed:22864287}.
CC -!- PTM: Sumoylated with SUMO1. Sumoylated at Lys-386 by UBC9.
CC {ECO:0000269|PubMed:11124955, ECO:0000269|PubMed:22214662,
CC ECO:0000269|Ref.37}.
CC -!- DISEASE: Note=TP53 is found in increased amounts in a wide variety of
CC transformed cells. TP53 is frequently mutated or inactivated in about
CC 60% of cancers. TP53 defects are found in Barrett metaplasia a
CC condition in which the normally stratified squamous epithelium of the
CC lower esophagus is replaced by a metaplastic columnar epithelium. The
CC condition develops as a complication in approximately 10% of patients
CC with chronic gastroesophageal reflux disease and predisposes to the
CC development of esophageal adenocarcinoma.
CC -!- DISEASE: Esophageal cancer (ESCR) [MIM:133239]: A malignancy of the
CC esophagus. The most common types are esophageal squamous cell carcinoma
CC and adenocarcinoma. Cancer of the esophagus remains a devastating
CC disease because it is usually not detected until it has progressed to
CC an advanced incurable stage. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Li-Fraumeni syndrome (LFS) [MIM:151623]: An autosomal dominant
CC familial cancer syndrome that in its classic form is defined by the
CC existence of a proband affected by a sarcoma before 45 years with a
CC first degree relative affected by any tumor before 45 years and another
CC first degree relative with any tumor before 45 years or a sarcoma at
CC any age. Other clinical definitions for LFS have been proposed and
CC called Li-Fraumeni like syndrome (LFL). In these families affected
CC relatives develop a diverse set of malignancies at unusually early
CC ages. Four types of cancers account for 80% of tumors occurring in TP53
CC germline mutation carriers: breast cancers, soft tissue and bone
CC sarcomas, brain tumors (astrocytomas) and adrenocortical carcinomas.
CC Less frequent tumors include choroid plexus carcinoma or papilloma
CC before the age of 15, rhabdomyosarcoma before the age of 5, leukemia,
CC Wilms tumor, malignant phyllodes tumor, colorectal and gastric cancers.
CC {ECO:0000269|PubMed:10484981, ECO:0000269|PubMed:1565144,
CC ECO:0000269|PubMed:1737852, ECO:0000269|PubMed:1933902,
CC ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:2259385,
CC ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920,
CC ECO:0000269|PubMed:9452042}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Squamous cell carcinoma of the head and neck (HNSCC)
CC [MIM:275355]: A non-melanoma skin cancer affecting the head and neck.
CC The hallmark of cutaneous SCC is malignant transformation of normal
CC epidermal keratinocytes. Note=The gene represented in this entry is
CC involved in disease pathogenesis.
CC -!- DISEASE: Lung cancer (LNCR) [MIM:211980]: A common malignancy affecting
CC tissues of the lung. The most common form of lung cancer is non-small
CC cell lung cancer (NSCLC) that can be divided into 3 major histologic
CC subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung
CC cancer. NSCLC is often diagnosed at an advanced stage and has a poor
CC prognosis. Note=The disease is caused by variants affecting the gene
CC represented in this entry.
CC -!- DISEASE: Papilloma of choroid plexus (CPP) [MIM:260500]: A benign tumor
CC of neuroectodermal origin that generally occurs in childhood, but has
CC also been reported in adults. Although generally found within the
CC ventricular system, choroid plexus papillomas can arise ectopically in
CC the brain parenchyma or disseminate throughout the neuraxis. Patients
CC present with signs and symptoms of increased intracranial pressure
CC including headache, hydrocephalus, papilledema, nausea, vomiting,
CC cranial nerve deficits, gait impairment, and seizures.
CC {ECO:0000269|PubMed:12085209}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Adrenocortical carcinoma (ADCC) [MIM:202300]: A malignant
CC neoplasm of the adrenal cortex and a rare childhood tumor. It occurs
CC with increased frequency in patients with Beckwith-Wiedemann syndrome
CC and Li-Fraumeni syndrome. {ECO:0000269|PubMed:11481490}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- DISEASE: Basal cell carcinoma 7 (BCC7) [MIM:614740]: A common malignant
CC skin neoplasm that typically appears on hair-bearing skin, most
CC commonly on sun-exposed areas. It is slow growing and rarely
CC metastasizes, but has potentialities for local invasion and
CC destruction. It usually develops as a flat, firm, pale area that is
CC small, raised, pink or red, translucent, shiny, and waxy, and the area
CC may bleed following minor injury. Tumor size can vary from a few
CC millimeters to several centimeters in diameter.
CC {ECO:0000269|PubMed:21946351}. Note=Disease susceptibility is
CC associated with variants affecting the gene represented in this entry.
CC -!- DISEASE: Bone marrow failure syndrome 5 (BMFS5) [MIM:618165]: A form of
CC bone marrow failure syndrome, a heterogeneous group of life-threatening
CC disorders characterized by hematopoietic defects in association with a
CC range of variable extra-hematopoietic manifestations. BMFS5 is an
CC autosomal dominant form characterized by infantile onset of severe red
CC cell anemia requiring transfusion. Additional features include
CC hypogammaglobulinemia, poor growth with microcephaly, developmental
CC delay, and seizures. {ECO:0000269|PubMed:30146126}. Note=The disease is
CC caused by variants affecting the gene represented in this entry.
CC -!- MISCELLANEOUS: [Isoform 2]: Expressed in quiescent lymphocytes. Seems
CC to be non-functional. May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 3]: Expressed in quiescent lymphocytes. Seems
CC to be non-functional. May be produced at very low levels due to a
CC premature stop codon in the mRNA, leading to nonsense-mediated mRNA
CC decay. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 7]: Produced by alternative promoter usage.
CC {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 8]: Produced by alternative promoter usage and
CC alternative splicing. {ECO:0000305}.
CC -!- MISCELLANEOUS: [Isoform 9]: Produced by alternative promoter usage and
CC alternative splicing. {ECO:0000305}.
CC -!- SIMILARITY: Belongs to the p53 family. {ECO:0000305}.
CC -!- CAUTION: Interaction with BANP was reported to enhance phosphorylation
CC on Ser-15 upon ultraviolet irradiation (PubMed:15701641). However, the
CC publication has been retracted due to image duplication and
CC manipulation. Interaction with BANP has been confirmed in mouse studies
CC (By similarity). Phosphorylation at Ser-15 has been confirmed by other
CC studies (PubMed:10570149, PubMed:11554766, PubMed:16219768,
CC PubMed:15866171, PubMed:17317671, PubMed:17954561, PubMed:20959462,
CC PubMed:25772236). Its nuclear and cytoplasmic localization has been
CC confirmed by other studies (PubMed:15340061, PubMed:17170702,
CC PubMed:19011621, PubMed:21597459, PubMed:22726440, PubMed:17591690,
CC PubMed:18206965). {ECO:0000250|UniProtKB:P02340,
CC ECO:0000269|PubMed:10570149, ECO:0000269|PubMed:11554766,
CC ECO:0000269|PubMed:15340061, ECO:0000269|PubMed:15701641,
CC ECO:0000269|PubMed:15866171, ECO:0000269|PubMed:16219768,
CC ECO:0000269|PubMed:17170702, ECO:0000269|PubMed:17317671,
CC ECO:0000269|PubMed:17591690, ECO:0000269|PubMed:17954561,
CC ECO:0000269|PubMed:18206965, ECO:0000269|PubMed:19011621,
CC ECO:0000269|PubMed:20959462, ECO:0000269|PubMed:21597459,
CC ECO:0000269|PubMed:22726440, ECO:0000269|PubMed:25772236,
CC ECO:0000305|PubMed:32144153}.
CC -!- WEB RESOURCE: Name=IARC TP53 mutation database; Note=Somatic and
CC germline TP53 mutations in human cancers;
CC URL="https://p53.iarc.fr/";
CC -!- WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and
CC Haematology;
CC URL="http://atlasgeneticsoncology.org/Genes/P53ID88.html";
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/tp53/";
CC -!- WEB RESOURCE: Name=Wikipedia; Note=P53 entry;
CC URL="https://en.wikipedia.org/wiki/P53";
CC -!- WEB RESOURCE: Name=Protein Spotlight; Note=On the right track - Issue
CC 206 of August 2018;
CC URL="https://web.expasy.org/spotlight/back_issues/206/";
CC ---------------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution (CC BY 4.0) License
CC ---------------------------------------------------------------------------
DR EMBL; X02469; CAA26306.1; -; mRNA.
DR EMBL; M13121; AAA59987.1; -; Genomic_DNA.
DR EMBL; M13112; AAA59987.1; JOINED; Genomic_DNA.
DR EMBL; M13113; AAA59987.1; JOINED; Genomic_DNA.
DR EMBL; M13114; AAA59987.1; JOINED; Genomic_DNA.
DR EMBL; M13115; AAA59987.1; JOINED; Genomic_DNA.
DR EMBL; M13116; AAA59987.1; JOINED; Genomic_DNA.
DR EMBL; M13117; AAA59987.1; JOINED; Genomic_DNA.
DR EMBL; M13118; AAA59987.1; JOINED; Genomic_DNA.
DR EMBL; M13119; AAA59987.1; JOINED; Genomic_DNA.
DR EMBL; M13120; AAA59987.1; JOINED; Genomic_DNA.
DR EMBL; K03199; AAA59989.1; -; mRNA.
DR EMBL; M14694; AAA61211.1; -; mRNA.
DR EMBL; M14695; AAA61212.1; -; mRNA.
DR EMBL; M22898; AAA59988.1; -; Genomic_DNA.
DR EMBL; M22882; AAA59988.1; JOINED; Genomic_DNA.
DR EMBL; M22883; AAA59988.1; JOINED; Genomic_DNA.
DR EMBL; M22884; AAA59988.1; JOINED; Genomic_DNA.
DR EMBL; M22887; AAA59988.1; JOINED; Genomic_DNA.
DR EMBL; M22888; AAA59988.1; JOINED; Genomic_DNA.
DR EMBL; M22894; AAA59988.1; JOINED; Genomic_DNA.
DR EMBL; M22895; AAA59988.1; JOINED; Genomic_DNA.
DR EMBL; M22896; AAA59988.1; JOINED; Genomic_DNA.
DR EMBL; M22897; AAA59988.1; JOINED; Genomic_DNA.
DR EMBL; X01405; CAA25652.1; -; mRNA.
DR EMBL; X60011; CAA42626.1; -; mRNA.
DR EMBL; X60012; CAA42627.1; ALT_TERM; mRNA.
DR EMBL; X60013; CAA42628.1; -; mRNA.
DR EMBL; X60014; CAA42629.1; -; mRNA.
DR EMBL; X60015; CAA42630.1; -; mRNA.
DR EMBL; X60016; CAA42631.1; -; mRNA.
DR EMBL; X60017; CAA42632.1; -; mRNA.
DR EMBL; X60018; CAA42633.1; -; mRNA.
DR EMBL; X60019; CAA42634.1; -; mRNA.
DR EMBL; X60020; CAA42635.1; -; mRNA.
DR EMBL; AF307851; AAG28785.1; -; mRNA.
DR EMBL; DQ186648; ABA29753.1; -; mRNA.
DR EMBL; DQ186649; ABA29754.1; -; mRNA.
DR EMBL; DQ186650; ABA29755.1; -; mRNA.
DR EMBL; DQ186651; ABA29756.1; -; mRNA.
DR EMBL; DQ186652; ABA29757.1; -; mRNA.
DR EMBL; DQ191317; ABB80262.1; -; mRNA.
DR EMBL; DQ286964; ABB80266.1; -; mRNA.
DR EMBL; X54156; CAA38095.1; -; Genomic_DNA.
DR EMBL; U94788; AAC12971.1; -; Genomic_DNA.
DR EMBL; AY838896; AAV80424.1; -; Genomic_DNA.
DR EMBL; AF135121; AAD28535.1; -; Genomic_DNA.
DR EMBL; AF135120; AAD28535.1; JOINED; Genomic_DNA.
DR EMBL; AF136271; AAD28628.1; -; Genomic_DNA.
DR EMBL; AF136270; AAD28628.1; JOINED; Genomic_DNA.
DR EMBL; AB082923; BAC16799.1; -; mRNA.
DR EMBL; AK312568; BAG35463.1; -; mRNA.
DR EMBL; AC007421; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC087388; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471108; EAW90143.1; -; Genomic_DNA.
DR EMBL; CH471108; EAW90144.1; -; Genomic_DNA.
DR EMBL; BC003596; AAH03596.1; -; mRNA.
DR EMBL; AY429684; AAR10356.1; -; mRNA.
DR EMBL; AY390341; AAQ90158.1; -; Genomic_DNA.
DR EMBL; AY359814; AAR13239.1; -; Genomic_DNA.
DR EMBL; U63714; AAB39322.1; -; Genomic_DNA.
DR EMBL; AF209136; AAF36362.1; -; Genomic_DNA.
DR EMBL; AF209128; AAF36354.1; -; Genomic_DNA.
DR EMBL; AF209129; AAF36355.1; -; Genomic_DNA.
DR EMBL; AF209130; AAF36356.1; -; Genomic_DNA.
DR EMBL; AF209131; AAF36357.1; -; Genomic_DNA.
DR EMBL; AF209132; AAF36358.1; -; Genomic_DNA.
DR EMBL; AF209133; AAF36359.1; -; Genomic_DNA.
DR EMBL; AF209134; AAF36360.1; -; Genomic_DNA.
DR EMBL; AF209135; AAF36361.1; -; Genomic_DNA.
DR EMBL; AF209148; AAF36374.1; -; Genomic_DNA.
DR EMBL; AF209149; AAF36375.1; -; Genomic_DNA.
DR EMBL; AF209150; AAF36376.1; -; Genomic_DNA.
DR EMBL; AF209151; AAF36377.1; -; Genomic_DNA.
DR EMBL; AF209152; AAF36378.1; -; Genomic_DNA.
DR EMBL; AF209153; AAF36379.1; -; Genomic_DNA.
DR EMBL; AF209154; AAF36380.1; -; Genomic_DNA.
DR EMBL; AF209155; AAF36381.1; -; Genomic_DNA.
DR EMBL; AF209156; AAF36382.1; -; Genomic_DNA.
DR EMBL; AF210309; AAF63442.1; -; Genomic_DNA.
DR EMBL; AF210308; AAF63442.1; JOINED; Genomic_DNA.
DR EMBL; AF210310; AAF63443.1; -; Genomic_DNA.
DR EMBL; AF240684; AAK76358.1; -; Genomic_DNA.
DR EMBL; AF240685; AAK76359.1; -; Genomic_DNA.
DR EMBL; AY270155; AAP30003.1; -; Genomic_DNA.
DR CCDS; CCDS11118.1; -. [P04637-1]
DR CCDS; CCDS45605.1; -. [P04637-3]
DR CCDS; CCDS45606.1; -. [P04637-2]
DR CCDS; CCDS73966.1; -. [P04637-7]
DR CCDS; CCDS73967.1; -. [P04637-9]
DR CCDS; CCDS73968.1; -. [P04637-8]
DR CCDS; CCDS73969.1; -. [P04637-4]
DR CCDS; CCDS73970.1; -. [P04637-6]
DR CCDS; CCDS73971.1; -. [P04637-5]
DR PIR; A25224; DNHU53.
DR RefSeq; NP_000537.3; NM_000546.5. [P04637-1]
DR RefSeq; NP_001119584.1; NM_001126112.2. [P04637-1]
DR RefSeq; NP_001119585.1; NM_001126113.2. [P04637-3]
DR RefSeq; NP_001119586.1; NM_001126114.2. [P04637-2]
DR RefSeq; NP_001119587.1; NM_001126115.1. [P04637-7]
DR RefSeq; NP_001119588.1; NM_001126116.1. [P04637-8]
DR RefSeq; NP_001119589.1; NM_001126117.1. [P04637-9]
DR RefSeq; NP_001119590.1; NM_001126118.1. [P04637-4]
DR RefSeq; NP_001263624.1; NM_001276695.1. [P04637-6]
DR RefSeq; NP_001263625.1; NM_001276696.1. [P04637-5]
DR RefSeq; NP_001263626.1; NM_001276697.1.
DR RefSeq; NP_001263627.1; NM_001276698.1.
DR RefSeq; NP_001263628.1; NM_001276699.1.
DR RefSeq; NP_001263689.1; NM_001276760.1. [P04637-4]
DR RefSeq; NP_001263690.1; NM_001276761.1. [P04637-4]
DR PDB; 1A1U; NMR; -; A/C=324-358.
DR PDB; 1AIE; X-ray; 1.50 A; A=326-356.
DR PDB; 1C26; X-ray; 1.70 A; A=325-356.
DR PDB; 1DT7; NMR; -; X/Y=367-388.
DR PDB; 1GZH; X-ray; 2.60 A; A/C=95-292.
DR PDB; 1H26; X-ray; 2.24 A; E=376-386.
DR PDB; 1HS5; NMR; -; A/B=324-357.
DR PDB; 1JSP; NMR; -; A=367-386.
DR PDB; 1KZY; X-ray; 2.50 A; A/B=95-289.
DR PDB; 1MA3; X-ray; 2.00 A; B=372-389.
DR PDB; 1OLG; NMR; -; A/B/C/D=319-360.
DR PDB; 1OLH; NMR; -; A/B/C/D=319-360.
DR PDB; 1PES; NMR; -; A/B/C/D=325-355.
DR PDB; 1PET; NMR; -; A/B/C/D=325-355.
DR PDB; 1SAE; NMR; -; A/B/C/D=319-360.
DR PDB; 1SAF; NMR; -; A/B/C/D=319-360.
DR PDB; 1SAK; NMR; -; A/B/C/D=319-360.
DR PDB; 1SAL; NMR; -; A/B/C/D=319-360.
DR PDB; 1TSR; X-ray; 2.20 A; A/B/C=94-312.
DR PDB; 1TUP; X-ray; 2.20 A; A/B/C=94-312.
DR PDB; 1UOL; X-ray; 1.90 A; A/B=94-312.
DR PDB; 1XQH; X-ray; 1.75 A; B/F=369-377.
DR PDB; 1YC5; X-ray; 1.40 A; B=372-389.
DR PDB; 1YCQ; X-ray; 2.30 A; B=13-29.
DR PDB; 1YCR; X-ray; 2.60 A; B=15-29.
DR PDB; 1YCS; X-ray; 2.20 A; A=94-292.
DR PDB; 2AC0; X-ray; 1.80 A; A/B/C/D=94-293.
DR PDB; 2ADY; X-ray; 2.50 A; A/B=94-293.
DR PDB; 2AHI; X-ray; 1.85 A; A/B/C/D=94-293.
DR PDB; 2ATA; X-ray; 2.20 A; A/B/C/D=94-293.
DR PDB; 2B3G; X-ray; 1.60 A; B=33-60.
DR PDB; 2BIM; X-ray; 1.98 A; A/B=94-312.
DR PDB; 2BIN; X-ray; 1.90 A; A=94-312.
DR PDB; 2BIO; X-ray; 1.90 A; A=94-312.
DR PDB; 2BIP; X-ray; 1.80 A; A=94-312.
DR PDB; 2BIQ; X-ray; 1.80 A; A=94-312.
DR PDB; 2F1X; X-ray; 2.30 A; A/B=359-368.
DR PDB; 2FEJ; NMR; -; A=94-297.
DR PDB; 2FOJ; X-ray; 1.60 A; B=361-367.
DR PDB; 2FOO; X-ray; 2.20 A; B=358-363.
DR PDB; 2GS0; NMR; -; B=20-73.
DR PDB; 2H1L; X-ray; 3.16 A; M/N/O/P/Q/R/S/T/U/V/W/X=92-292.
DR PDB; 2H2D; X-ray; 1.70 A; B=372-389.
DR PDB; 2H2F; X-ray; 2.20 A; B=372-389.
DR PDB; 2H4F; X-ray; 2.00 A; D=372-389.
DR PDB; 2H4H; X-ray; 1.99 A; B=372-389.
DR PDB; 2H4J; X-ray; 2.10 A; D=372-389.
DR PDB; 2H59; X-ray; 1.90 A; D/E=372-389.
DR PDB; 2J0Z; NMR; -; A/B/C/D=326-356.
DR PDB; 2J10; NMR; -; A/B/C/D=326-356.
DR PDB; 2J11; NMR; -; A/B/C/D=326-356.
DR PDB; 2J1W; X-ray; 1.80 A; A/B=94-312.
DR PDB; 2J1X; X-ray; 1.65 A; A/B=94-312.
DR PDB; 2J1Y; X-ray; 1.69 A; A/B/C/D=94-293.
DR PDB; 2J1Z; X-ray; 1.80 A; A/B=94-312.
DR PDB; 2J20; X-ray; 1.80 A; A/B=94-312.
DR PDB; 2J21; X-ray; 1.60 A; A/B=94-312.
DR PDB; 2K8F; NMR; -; B=1-39.
DR PDB; 2L14; NMR; -; B=13-61.
DR PDB; 2LY4; NMR; -; B=1-93.
DR PDB; 2MEJ; NMR; -; B=96-312.
DR PDB; 2MWO; NMR; -; B=363-377.
DR PDB; 2MWP; NMR; -; B=376-387.
DR PDB; 2MWY; NMR; -; B=15-29.
DR PDB; 2MZD; NMR; -; B=35-59.
DR PDB; 2OCJ; X-ray; 2.05 A; A/B/C/D=94-312.
DR PDB; 2PCX; X-ray; 1.54 A; A=94-292.
DR PDB; 2RUK; NMR; -; A=41-62.
DR PDB; 2VUK; X-ray; 1.50 A; A/B=94-312.
DR PDB; 2WGX; X-ray; 1.75 A; A/B=94-312.
DR PDB; 2X0U; X-ray; 1.60 A; A/B=94-312.
DR PDB; 2X0V; X-ray; 1.80 A; A/B=94-312.
DR PDB; 2X0W; X-ray; 2.10 A; A/B=94-312.
DR PDB; 2XWR; X-ray; 1.68 A; A/B=89-293.
DR PDB; 2YBG; X-ray; 1.90 A; A/B/C/D=94-293.
DR PDB; 2YDR; X-ray; 2.75 A; P=144-154.
DR PDB; 2Z5S; X-ray; 2.30 A; P/Q/R=15-29.
DR PDB; 2Z5T; X-ray; 2.30 A; P/Q/R=15-29.
DR PDB; 3D05; X-ray; 1.70 A; A=94-293.
DR PDB; 3D06; X-ray; 1.20 A; A=94-293.
DR PDB; 3D07; X-ray; 2.20 A; A/B=94-293.
DR PDB; 3D08; X-ray; 1.40 A; A=94-293.
DR PDB; 3D09; X-ray; 1.90 A; A=94-293.
DR PDB; 3D0A; X-ray; 1.80 A; A/B/C/D=94-293.
DR PDB; 3DAB; X-ray; 1.90 A; B/D/F/H=15-29.
DR PDB; 3DAC; X-ray; 1.80 A; B/P=17-37.
DR PDB; 3IGK; X-ray; 1.70 A; A=94-293.
DR PDB; 3IGL; X-ray; 1.80 A; A=94-293.
DR PDB; 3KMD; X-ray; 2.15 A; A/B/C/D=92-291.
DR PDB; 3KZ8; X-ray; 1.91 A; A/B=94-293.
DR PDB; 3LW1; X-ray; 1.28 A; P=385-393.
DR PDB; 3OQ5; X-ray; 2.50 A; D/E=377-386.
DR PDB; 3PDH; X-ray; 1.80 A; D=372-389.
DR PDB; 3Q01; X-ray; 2.10 A; A/B=94-356.
DR PDB; 3Q05; X-ray; 2.40 A; A/B/C/D=94-356.
DR PDB; 3Q06; X-ray; 3.20 A; A/B/C/D=96-354.
DR PDB; 3SAK; NMR; -; A/B/C/D=319-360.
DR PDB; 3TG5; X-ray; 2.30 A; B=365-375.
DR PDB; 3TS8; X-ray; 2.80 A; A/B/C/D=94-356.
DR PDB; 3ZME; X-ray; 1.35 A; A/B=94-312.
DR PDB; 4AGL; X-ray; 1.70 A; A/B=94-312.
DR PDB; 4AGM; X-ray; 1.52 A; A/B=94-312.
DR PDB; 4AGN; X-ray; 1.60 A; A/B=94-312.
DR PDB; 4AGO; X-ray; 1.45 A; A/B=94-312.
DR PDB; 4AGP; X-ray; 1.50 A; A/B=94-312.
DR PDB; 4AGQ; X-ray; 1.42 A; A/B=94-312.
DR PDB; 4BUZ; X-ray; 1.90 A; P=379-386.
DR PDB; 4BV2; X-ray; 3.30 A; E/H=376-388.
DR PDB; 4HFZ; X-ray; 2.69 A; B/D=15-29.
DR PDB; 4HJE; X-ray; 1.91 A; A/B/C/D=92-291.
DR PDB; 4IBQ; X-ray; 1.80 A; A/B/C/D=94-293.
DR PDB; 4IBS; X-ray; 1.78 A; A/B/C/D=94-293.
DR PDB; 4IBT; X-ray; 1.70 A; A/B/C/D=94-293.
DR PDB; 4IBU; X-ray; 1.70 A; A/B/C/D=94-293.
DR PDB; 4IBV; X-ray; 2.10 A; A=94-293.
DR PDB; 4IBW; X-ray; 1.79 A; A=94-293.
DR PDB; 4IBY; X-ray; 1.45 A; A/B=94-293.
DR PDB; 4IBZ; X-ray; 1.92 A; A/B/C/D=94-293.
DR PDB; 4IJT; X-ray; 1.78 A; A=94-293.
DR PDB; 4KVP; X-ray; 1.50 A; A/B/C/D=94-312.
DR PDB; 4LO9; X-ray; 2.50 A; A/B/C/D=94-312.
DR PDB; 4LOE; X-ray; 1.85 A; A/B/C/D=94-312.
DR PDB; 4LOF; X-ray; 2.00 A; A=94-312.
DR PDB; 4MZI; X-ray; 1.25 A; A=94-292.
DR PDB; 4MZR; X-ray; 2.90 A; A/B/C/D=94-358.
DR PDB; 4QO1; X-ray; 1.92 A; B=92-312.
DR PDB; 4RP6; X-ray; 1.70 A; Z=252-258.
DR PDB; 4RP7; X-ray; 1.58 A; Z=253-258.
DR PDB; 4X34; X-ray; 1.80 A; C/D=377-386.
DR PDB; 4XR8; X-ray; 2.25 A; C/D=94-292.
DR PDB; 4ZZJ; X-ray; 2.74 A; B=379-383.
DR PDB; 5A7B; X-ray; 1.40 A; A/B=94-312.
DR PDB; 5AB9; X-ray; 1.36 A; A/B=94-312.
DR PDB; 5ABA; X-ray; 1.62 A; A/B=94-312.
DR PDB; 5AOI; X-ray; 1.78 A; A/B=94-312.
DR PDB; 5AOJ; X-ray; 1.47 A; A/B=94-312.
DR PDB; 5AOK; X-ray; 1.35 A; A/B=94-312.
DR PDB; 5AOL; X-ray; 1.50 A; A/B=94-312.
DR PDB; 5AOM; X-ray; 1.74 A; A/B=94-312.
DR PDB; 5BUA; X-ray; 1.81 A; A=94-293.
DR PDB; 5ECG; X-ray; 3.00 A; A/B=95-312.
DR PDB; 5G4M; X-ray; 1.38 A; A/B=94-312.
DR PDB; 5G4N; X-ray; 1.35 A; A/B=94-312.
DR PDB; 5G4O; X-ray; 1.48 A; A/B=94-312.
DR PDB; 5HOU; NMR; -; A=1-61.
DR PDB; 5HP0; NMR; -; A=37-61.
DR PDB; 5HPD; NMR; -; A=2-61.
DR PDB; 5LAP; X-ray; 1.42 A; A/B=94-312.
DR PDB; 5LGY; X-ray; 2.92 A; A/B/C/D=94-291.
DR PDB; 5MCT; X-ray; 1.45 A; A/B=94-293.
DR PDB; 5MCU; X-ray; 1.70 A; A/B=94-293.
DR PDB; 5MCV; X-ray; 1.60 A; A/B=94-293.
DR PDB; 5MCW; X-ray; 1.90 A; A/B=94-293.
DR PDB; 5MF7; X-ray; 1.59 A; A/B=94-293.
DR PDB; 5MG7; X-ray; 1.45 A; A/B=94-293.
DR PDB; 5MHC; X-ray; 1.20 A; P=382-393.
DR PDB; 5MOC; X-ray; 1.80 A; P=382-393.
DR PDB; 5O1A; X-ray; 1.44 A; A/B=94-312.
DR PDB; 5O1B; X-ray; 1.43 A; A/B=94-312.
DR PDB; 5O1C; X-ray; 1.32 A; A/B=94-312.
DR PDB; 5O1D; X-ray; 1.36 A; A/B=94-312.
DR PDB; 5O1E; X-ray; 1.30 A; A/B=94-312.
DR PDB; 5O1F; X-ray; 1.38 A; A/B=94-312.
DR PDB; 5O1G; X-ray; 1.35 A; A/B=94-312.
DR PDB; 5O1H; X-ray; 1.32 A; A/B=94-312.
DR PDB; 5O1I; X-ray; 1.40 A; A/B=94-312.
DR PDB; 5OL0; X-ray; 1.99 A; C/D=372-389.
DR PDB; 5UN8; X-ray; 2.13 A; E/F/G/H=144-154.
DR PDB; 5XZC; EM; 10.70 A; B/C/D/E=92-356.
DR PDB; 6FF9; X-ray; 2.00 A; A/B/C/D=97-289.
DR PDB; 6FJ5; X-ray; 2.05 A; A/B/C/D=94-293.
DR PDB; 6GGA; X-ray; 1.55 A; A/B=94-312.
DR PDB; 6GGB; X-ray; 1.32 A; A/B=94-312.
DR PDB; 6GGC; X-ray; 1.24 A; A/B=94-312.
DR PDB; 6GGD; X-ray; 1.40 A; A/B=94-312.
DR PDB; 6GGE; X-ray; 1.25 A; A/B=94-312.
DR PDB; 6GGF; X-ray; 1.32 A; A/B=94-312.
DR PDB; 6LHD; X-ray; 2.50 A; A/B=96-292.
DR PDB; 6R5L; X-ray; 1.88 A; P=382-393.
DR PDB; 6RJZ; X-ray; 1.58 A; P=382-393.
DR PDB; 6RK8; X-ray; 1.60 A; P=382-393.
DR PDB; 6RKI; X-ray; 1.88 A; P=382-393.
DR PDB; 6RKK; X-ray; 1.88 A; P=382-393.
DR PDB; 6RKM; X-ray; 1.88 A; P=382-393.
DR PDB; 6RL3; X-ray; 1.30 A; P=382-393.
DR PDB; 6RL4; X-ray; 1.60 A; P=382-393.
DR PDB; 6RL6; X-ray; 1.60 A; P=382-393.
DR PDB; 6RM5; X-ray; 1.88 A; P=382-393.
DR PDB; 6RM7; X-ray; 1.60 A; P=382-393.
DR PDB; 6RWH; X-ray; 1.68 A; P=382-393.
DR PDB; 6RWI; X-ray; 1.65 A; P=382-393.
DR PDB; 6RWS; X-ray; 1.53 A; P=382-393.
DR PDB; 6RWU; X-ray; 1.46 A; P=382-393.
DR PDB; 6RX2; X-ray; 1.82 A; P=382-393.
DR PDB; 6RZ3; X-ray; 4.23 A; A=62-292.
DR PDB; 6S39; X-ray; 1.88 A; P=382-393.
DR PDB; 6S3C; X-ray; 2.00 A; P=382-393.
DR PDB; 6S40; X-ray; 1.90 A; P=382-393.
DR PDB; 6S9Q; X-ray; 1.69 A; P=382-393.
DR PDB; 6SHZ; X-ray; 1.24 A; A/B=94-311.
DR PDB; 6SI0; X-ray; 1.53 A; A/B=94-312.
DR PDB; 6SI1; X-ray; 1.44 A; A/B=94-312.
DR PDB; 6SI2; X-ray; 1.50 A; A/B=94-312.
DR PDB; 6SI3; X-ray; 1.40 A; A/B=94-312.
DR PDB; 6SI4; X-ray; 1.80 A; A/B=94-312.
DR PDB; 6SIN; X-ray; 1.64 A; P=382-393.
DR PDB; 6SIO; X-ray; 1.60 A; P=382-393.
DR PDB; 6SIP; X-ray; 1.60 A; P=382-393.
DR PDB; 6SIQ; X-ray; 1.60 A; P=382-393.
DR PDB; 6SL6; X-ray; 1.67 A; A=89-311.
DR PDB; 6SLV; X-ray; 1.90 A; P=382-393.
DR PDB; 6T58; X-ray; 3.10 A; A/B=17-56.
DR PDB; 6V4F; X-ray; 1.35 A; B=14-29.
DR PDB; 6V4H; X-ray; 1.53 A; B/D=14-29.
DR PDB; 6VQO; X-ray; 3.00 A; P/Q=168-176.
DR PDB; 6VR1; X-ray; 2.37 A; P/Q=168-176.
DR PDB; 6VR5; X-ray; 2.38 A; P/Q=168-176.
DR PDB; 6VRM; X-ray; 2.61 A; P=168-176.
DR PDB; 6VRN; X-ray; 2.46 A; P=168-176.
DR PDB; 6W51; X-ray; 3.53 A; C/F/I/L=168-176.
DR PDB; 6XRE; EM; 4.60 A; M=1-393.
DR PDB; 6ZNC; X-ray; 1.64 A; A=94-293.
DR PDB; 7B46; X-ray; 2.02 A; A/B/C/D=94-293.
DR PDB; 7B47; X-ray; 1.80 A; A/B/C/D=94-293.
DR PDB; 7B48; X-ray; 2.05 A; A/B/C/D=94-293.
DR PDB; 7B49; X-ray; 1.42 A; A/B=94-293.
DR PDB; 7B4A; X-ray; 1.90 A; A/B=94-293.
DR PDB; 7B4B; X-ray; 1.76 A; A/B/C/D=94-293.
DR PDB; 7B4C; X-ray; 1.71 A; A/B/C/D=94-293.
DR PDB; 7B4D; X-ray; 1.85 A; A=94-293.
DR PDB; 7B4E; X-ray; 1.58 A; A=94-293.
DR PDB; 7B4F; X-ray; 1.78 A; A=94-293.
DR PDB; 7B4G; X-ray; 1.86 A; A=94-293.
DR PDB; 7B4H; X-ray; 1.39 A; A=94-293.
DR PDB; 7B4N; X-ray; 1.32 A; A=94-293.
DR PDB; 7BWN; X-ray; 2.40 A; B/D/G/I/K/L/N/P=326-356.
DR PDB; 7DHY; X-ray; 2.15 A; A/B/C/D=94-293.
DR PDB; 7DHZ; X-ray; 1.74 A; A/B=94-293.
DR PDB; 7DVD; X-ray; 2.59 A; A/B/C/D=92-290.
DR PDB; 7EAX; X-ray; 2.55 A; A/B/C/D=96-289.
DR PDB; 7EL4; X-ray; 2.11 A; A=23-29.
DR PDB; 7NMI; X-ray; 2.10 A; A=17-56.
DR PDB; 7RM4; X-ray; 3.33 A; C/H/M/R=168-176.
DR PDBsum; 1A1U; -.
DR PDBsum; 1AIE; -.
DR PDBsum; 1C26; -.
DR PDBsum; 1DT7; -.
DR PDBsum; 1GZH; -.
DR PDBsum; 1H26; -.
DR PDBsum; 1HS5; -.
DR PDBsum; 1JSP; -.
DR PDBsum; 1KZY; -.
DR PDBsum; 1MA3; -.
DR PDBsum; 1OLG; -.
DR PDBsum; 1OLH; -.
DR PDBsum; 1PES; -.
DR PDBsum; 1PET; -.
DR PDBsum; 1SAE; -.
DR PDBsum; 1SAF; -.
DR PDBsum; 1SAK; -.
DR PDBsum; 1SAL; -.
DR PDBsum; 1TSR; -.
DR PDBsum; 1TUP; -.
DR PDBsum; 1UOL; -.
DR PDBsum; 1XQH; -.
DR PDBsum; 1YC5; -.
DR PDBsum; 1YCQ; -.
DR PDBsum; 1YCR; -.
DR PDBsum; 1YCS; -.
DR PDBsum; 2AC0; -.
DR PDBsum; 2ADY; -.
DR PDBsum; 2AHI; -.
DR PDBsum; 2ATA; -.
DR PDBsum; 2B3G; -.
DR PDBsum; 2BIM; -.
DR PDBsum; 2BIN; -.
DR PDBsum; 2BIO; -.
DR PDBsum; 2BIP; -.
DR PDBsum; 2BIQ; -.
DR PDBsum; 2F1X; -.
DR PDBsum; 2FEJ; -.
DR PDBsum; 2FOJ; -.
DR PDBsum; 2FOO; -.
DR PDBsum; 2GS0; -.
DR PDBsum; 2H1L; -.
DR PDBsum; 2H2D; -.
DR PDBsum; 2H2F; -.
DR PDBsum; 2H4F; -.
DR PDBsum; 2H4H; -.
DR PDBsum; 2H4J; -.
DR PDBsum; 2H59; -.
DR PDBsum; 2J0Z; -.
DR PDBsum; 2J10; -.
DR PDBsum; 2J11; -.
DR PDBsum; 2J1W; -.
DR PDBsum; 2J1X; -.
DR PDBsum; 2J1Y; -.
DR PDBsum; 2J1Z; -.
DR PDBsum; 2J20; -.
DR PDBsum; 2J21; -.
DR PDBsum; 2K8F; -.
DR PDBsum; 2L14; -.
DR PDBsum; 2LY4; -.
DR PDBsum; 2MEJ; -.
DR PDBsum; 2MWO; -.
DR PDBsum; 2MWP; -.
DR PDBsum; 2MWY; -.
DR PDBsum; 2MZD; -.
DR PDBsum; 2OCJ; -.
DR PDBsum; 2PCX; -.
DR PDBsum; 2RUK; -.
DR PDBsum; 2VUK; -.
DR PDBsum; 2WGX; -.
DR PDBsum; 2X0U; -.
DR PDBsum; 2X0V; -.
DR PDBsum; 2X0W; -.
DR PDBsum; 2XWR; -.
DR PDBsum; 2YBG; -.
DR PDBsum; 2YDR; -.
DR PDBsum; 2Z5S; -.
DR PDBsum; 2Z5T; -.
DR PDBsum; 3D05; -.
DR PDBsum; 3D06; -.
DR PDBsum; 3D07; -.
DR PDBsum; 3D08; -.
DR PDBsum; 3D09; -.
DR PDBsum; 3D0A; -.
DR PDBsum; 3DAB; -.
DR PDBsum; 3DAC; -.
DR PDBsum; 3IGK; -.
DR PDBsum; 3IGL; -.
DR PDBsum; 3KMD; -.
DR PDBsum; 3KZ8; -.
DR PDBsum; 3LW1; -.
DR PDBsum; 3OQ5; -.
DR PDBsum; 3PDH; -.
DR PDBsum; 3Q01; -.
DR PDBsum; 3Q05; -.
DR PDBsum; 3Q06; -.
DR PDBsum; 3SAK; -.
DR PDBsum; 3TG5; -.
DR PDBsum; 3TS8; -.
DR PDBsum; 3ZME; -.
DR PDBsum; 4AGL; -.
DR PDBsum; 4AGM; -.
DR PDBsum; 4AGN; -.
DR PDBsum; 4AGO; -.
DR PDBsum; 4AGP; -.
DR PDBsum; 4AGQ; -.
DR PDBsum; 4BUZ; -.
DR PDBsum; 4BV2; -.
DR PDBsum; 4HFZ; -.
DR PDBsum; 4HJE; -.
DR PDBsum; 4IBQ; -.
DR PDBsum; 4IBS; -.
DR PDBsum; 4IBT; -.
DR PDBsum; 4IBU; -.
DR PDBsum; 4IBV; -.
DR PDBsum; 4IBW; -.
DR PDBsum; 4IBY; -.
DR PDBsum; 4IBZ; -.
DR PDBsum; 4IJT; -.
DR PDBsum; 4KVP; -.
DR PDBsum; 4LO9; -.
DR PDBsum; 4LOE; -.
DR PDBsum; 4LOF; -.
DR PDBsum; 4MZI; -.
DR PDBsum; 4MZR; -.
DR PDBsum; 4QO1; -.
DR PDBsum; 4RP6; -.
DR PDBsum; 4RP7; -.
DR PDBsum; 4X34; -.
DR PDBsum; 4XR8; -.
DR PDBsum; 4ZZJ; -.
DR PDBsum; 5A7B; -.
DR PDBsum; 5AB9; -.
DR PDBsum; 5ABA; -.
DR PDBsum; 5AOI; -.
DR PDBsum; 5AOJ; -.
DR PDBsum; 5AOK; -.
DR PDBsum; 5AOL; -.
DR PDBsum; 5AOM; -.
DR PDBsum; 5BUA; -.
DR PDBsum; 5ECG; -.
DR PDBsum; 5G4M; -.
DR PDBsum; 5G4N; -.
DR PDBsum; 5G4O; -.
DR PDBsum; 5HOU; -.
DR PDBsum; 5HP0; -.
DR PDBsum; 5HPD; -.
DR PDBsum; 5LAP; -.
DR PDBsum; 5LGY; -.
DR PDBsum; 5MCT; -.
DR PDBsum; 5MCU; -.
DR PDBsum; 5MCV; -.
DR PDBsum; 5MCW; -.
DR PDBsum; 5MF7; -.
DR PDBsum; 5MG7; -.
DR PDBsum; 5MHC; -.
DR PDBsum; 5MOC; -.
DR PDBsum; 5O1A; -.
DR PDBsum; 5O1B; -.
DR PDBsum; 5O1C; -.
DR PDBsum; 5O1D; -.
DR PDBsum; 5O1E; -.
DR PDBsum; 5O1F; -.
DR PDBsum; 5O1G; -.
DR PDBsum; 5O1H; -.
DR PDBsum; 5O1I; -.
DR PDBsum; 5OL0; -.
DR PDBsum; 5UN8; -.
DR PDBsum; 5XZC; -.
DR PDBsum; 6FF9; -.
DR PDBsum; 6FJ5; -.
DR PDBsum; 6GGA; -.
DR PDBsum; 6GGB; -.
DR PDBsum; 6GGC; -.
DR PDBsum; 6GGD; -.
DR PDBsum; 6GGE; -.
DR PDBsum; 6GGF; -.
DR PDBsum; 6LHD; -.
DR PDBsum; 6R5L; -.
DR PDBsum; 6RJZ; -.
DR PDBsum; 6RK8; -.
DR PDBsum; 6RKI; -.
DR PDBsum; 6RKK; -.
DR PDBsum; 6RKM; -.
DR PDBsum; 6RL3; -.
DR PDBsum; 6RL4; -.
DR PDBsum; 6RL6; -.
DR PDBsum; 6RM5; -.
DR PDBsum; 6RM7; -.
DR PDBsum; 6RWH; -.
DR PDBsum; 6RWI; -.
DR PDBsum; 6RWS; -.
DR PDBsum; 6RWU; -.
DR PDBsum; 6RX2; -.
DR PDBsum; 6RZ3; -.
DR PDBsum; 6S39; -.
DR PDBsum; 6S3C; -.
DR PDBsum; 6S40; -.
DR PDBsum; 6S9Q; -.
DR PDBsum; 6SHZ; -.
DR PDBsum; 6SI0; -.
DR PDBsum; 6SI1; -.
DR PDBsum; 6SI2; -.
DR PDBsum; 6SI3; -.
DR PDBsum; 6SI4; -.
DR PDBsum; 6SIN; -.
DR PDBsum; 6SIO; -.
DR PDBsum; 6SIP; -.
DR PDBsum; 6SIQ; -.
DR PDBsum; 6SL6; -.
DR PDBsum; 6SLV; -.
DR PDBsum; 6T58; -.
DR PDBsum; 6V4F; -.
DR PDBsum; 6V4H; -.
DR PDBsum; 6VQO; -.
DR PDBsum; 6VR1; -.
DR PDBsum; 6VR5; -.
DR PDBsum; 6VRM; -.
DR PDBsum; 6VRN; -.
DR PDBsum; 6W51; -.
DR PDBsum; 6XRE; -.
DR PDBsum; 6ZNC; -.
DR PDBsum; 7B46; -.
DR PDBsum; 7B47; -.
DR PDBsum; 7B48; -.
DR PDBsum; 7B49; -.
DR PDBsum; 7B4A; -.
DR PDBsum; 7B4B; -.
DR PDBsum; 7B4C; -.
DR PDBsum; 7B4D; -.
DR PDBsum; 7B4E; -.
DR PDBsum; 7B4F; -.
DR PDBsum; 7B4G; -.
DR PDBsum; 7B4H; -.
DR PDBsum; 7B4N; -.
DR PDBsum; 7BWN; -.
DR PDBsum; 7DHY; -.
DR PDBsum; 7DHZ; -.
DR PDBsum; 7DVD; -.
DR PDBsum; 7EAX; -.
DR PDBsum; 7EL4; -.
DR PDBsum; 7NMI; -.
DR PDBsum; 7RM4; -.
DR AlphaFoldDB; P04637; -.
DR BMRB; P04637; -.
DR SMR; P04637; -.
DR BioGRID; 113010; 2086.
DR ComplexPortal; CPX-6093; p53-MDM2-MDM4 transcriptional regulation complex.
DR ComplexPortal; CPX-663; p53-MDM4 transcriptional regulation complex.
DR ComplexPortal; CPX-759; p53-MDM2 transcriptional regulation complex.
DR CORUM; P04637; -.
DR DIP; DIP-368N; -.
DR ELM; P04637; -.
DR IntAct; P04637; 559.
DR MINT; P04637; -.
DR STRING; 9606.ENSP00000269305; -.
DR BindingDB; P04637; -.
DR ChEMBL; CHEMBL4096; -.
DR DrugBank; DB08363; 1-(9-ethyl-9H-carbazol-3-yl)-N-methylmethanamine.
DR DrugBank; DB00945; Acetylsalicylic acid.
DR DrugBank; DB05404; AZD 3355.
DR DrugBank; DB03347; Triethyl phosphate.
DR DrugBank; DB01593; Zinc.
DR DrugBank; DB14487; Zinc acetate.
DR DrugBank; DB14533; Zinc chloride.
DR DrugBank; DB14548; Zinc sulfate, unspecified form.
DR MoonDB; P04637; Predicted.
DR TCDB; 1.C.110.1.1; the pore-forming pnc-27 peptide of 32 aas from the p53 tumor suppressor protein (pnc-27) family.
DR GlyGen; P04637; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; P04637; -.
DR MetOSite; P04637; -.
DR PhosphoSitePlus; P04637; -.
DR BioMuta; TP53; -.
DR DMDM; 269849759; -.
DR SWISS-2DPAGE; P04637; -.
DR CPTAC; CPTAC-951; -.
DR EPD; P04637; -.
DR jPOST; P04637; -.
DR MassIVE; P04637; -.
DR MaxQB; P04637; -.
DR PaxDb; P04637; -.
DR PeptideAtlas; P04637; -.
DR PRIDE; P04637; -.
DR ProteomicsDB; 51728; -. [P04637-1]
DR ProteomicsDB; 51729; -. [P04637-2]
DR ProteomicsDB; 51730; -. [P04637-3]
DR ProteomicsDB; 51731; -. [P04637-4]
DR ProteomicsDB; 51732; -. [P04637-5]
DR ProteomicsDB; 51733; -. [P04637-6]
DR ProteomicsDB; 51734; -. [P04637-7]
DR ProteomicsDB; 51735; -. [P04637-8]
DR ProteomicsDB; 51736; -. [P04637-9]
DR ABCD; P04637; 67 sequenced antibodies.
DR Antibodypedia; 3525; 9422 antibodies from 64 providers.
DR CPTC; P04637; 2 antibodies.
DR DNASU; 7157; -.
DR Ensembl; ENST00000269305.9; ENSP00000269305.4; ENSG00000141510.18. [P04637-1]
DR Ensembl; ENST00000420246.6; ENSP00000391127.2; ENSG00000141510.18. [P04637-2]
DR Ensembl; ENST00000445888.6; ENSP00000391478.2; ENSG00000141510.18. [P04637-1]
DR Ensembl; ENST00000455263.6; ENSP00000398846.2; ENSG00000141510.18. [P04637-3]
DR Ensembl; ENST00000504290.5; ENSP00000484409.1; ENSG00000141510.18. [P04637-9]
DR Ensembl; ENST00000504937.5; ENSP00000481179.1; ENSG00000141510.18. [P04637-7]
DR Ensembl; ENST00000510385.5; ENSP00000478499.1; ENSG00000141510.18. [P04637-8]
DR Ensembl; ENST00000610292.4; ENSP00000478219.1; ENSG00000141510.18. [P04637-4]
DR Ensembl; ENST00000610538.4; ENSP00000480868.1; ENSG00000141510.18. [P04637-6]
DR Ensembl; ENST00000619485.4; ENSP00000482537.1; ENSG00000141510.18. [P04637-4]
DR Ensembl; ENST00000620739.4; ENSP00000481638.1; ENSG00000141510.18. [P04637-4]
DR Ensembl; ENST00000622645.4; ENSP00000482222.1; ENSG00000141510.18. [P04637-5]
DR GeneID; 7157; -.
DR KEGG; hsa:7157; -.
DR MANE-Select; ENST00000269305.9; ENSP00000269305.4; NM_000546.6; NP_000537.3.
DR UCSC; uc002gij.4; human. [P04637-1]
DR CTD; 7157; -.
DR DisGeNET; 7157; -.
DR GeneCards; TP53; -.
DR GeneReviews; TP53; -.
DR HGNC; HGNC:11998; TP53.
DR HPA; ENSG00000141510; Low tissue specificity.
DR MalaCards; TP53; -.
DR MIM; 133239; phenotype.
DR MIM; 151623; phenotype.
DR MIM; 191170; gene+phenotype.
DR MIM; 202300; phenotype.
DR MIM; 211980; phenotype.
DR MIM; 260500; phenotype.
DR MIM; 275355; phenotype.
DR MIM; 614740; phenotype.
DR MIM; 618165; phenotype.
DR neXtProt; NX_P04637; -.
DR OpenTargets; ENSG00000141510; -.
DR Orphanet; 1501; Adrenocortical carcinoma.
DR Orphanet; 210159; Adult hepatocellular carcinoma.
DR Orphanet; 67038; B-cell chronic lymphocytic leukemia.
DR Orphanet; 585877; B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality.
DR Orphanet; 251899; Choroid plexus carcinoma.
DR Orphanet; 3318; Essential thrombocythemia.
DR Orphanet; 1333; Familial pancreatic carcinoma.
DR Orphanet; 251579; Giant cell glioblastoma.
DR Orphanet; 251576; Gliosarcoma.
DR Orphanet; 145; Hereditary breast and ovarian cancer syndrome.
DR Orphanet; 524; Li-Fraumeni syndrome.
DR Orphanet; 668; Osteosarcoma.
DR Orphanet; 2807; Papilloma of choroid plexus.
DR Orphanet; 70573; Small cell lung cancer.
DR PharmGKB; PA36679; -.
DR VEuPathDB; HostDB:ENSG00000141510; -.
DR eggNOG; ENOG502QVY3; Eukaryota.
DR GeneTree; ENSGT00950000183153; -.
DR InParanoid; P04637; -.
DR OMA; FHKKGEP; -.
DR OrthoDB; 233858at2759; -.
DR PhylomeDB; P04637; -.
DR TreeFam; TF106101; -.
DR PathwayCommons; P04637; -.
DR Reactome; R-HSA-111448; Activation of NOXA and translocation to mitochondria.
DR Reactome; R-HSA-139915; Activation of PUMA and translocation to mitochondria.
DR Reactome; R-HSA-1912408; Pre-NOTCH Transcription and Translation.
DR Reactome; R-HSA-2559580; Oxidative Stress Induced Senescence.
DR Reactome; R-HSA-2559584; Formation of Senescence-Associated Heterochromatin Foci (SAHF).
DR Reactome; R-HSA-2559585; Oncogene Induced Senescence.
DR Reactome; R-HSA-2559586; DNA Damage/Telomere Stress Induced Senescence.
DR Reactome; R-HSA-3232118; SUMOylation of transcription factors.
DR Reactome; R-HSA-349425; Autodegradation of the E3 ubiquitin ligase COP1.
DR Reactome; R-HSA-390471; Association of TriC/CCT with target proteins during biosynthesis.
DR Reactome; R-HSA-5620971; Pyroptosis.
DR Reactome; R-HSA-5628897; TP53 Regulates Metabolic Genes.
DR Reactome; R-HSA-5689880; Ub-specific processing proteases.
DR Reactome; R-HSA-5689896; Ovarian tumor domain proteases.
DR Reactome; R-HSA-5693565; Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks.
DR Reactome; R-HSA-6785807; Interleukin-4 and Interleukin-13 signaling.
DR Reactome; R-HSA-6796648; TP53 Regulates Transcription of DNA Repair Genes.
DR Reactome; R-HSA-6803204; TP53 Regulates Transcription of Genes Involved in Cytochrome C Release.
DR Reactome; R-HSA-6803205; TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain.
DR Reactome; R-HSA-6803207; TP53 Regulates Transcription of Caspase Activators and Caspases.
DR Reactome; R-HSA-6803211; TP53 Regulates Transcription of Death Receptors and Ligands.
DR Reactome; R-HSA-6804114; TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest.
DR Reactome; R-HSA-6804115; TP53 regulates transcription of additional cell cycle genes whose exact role in the p53 pathway remain uncertain.
DR Reactome; R-HSA-6804116; TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest.
DR Reactome; R-HSA-6804754; Regulation of TP53 Expression.
DR Reactome; R-HSA-6804756; Regulation of TP53 Activity through Phosphorylation.
DR Reactome; R-HSA-6804757; Regulation of TP53 Degradation.
DR Reactome; R-HSA-6804758; Regulation of TP53 Activity through Acetylation.
DR Reactome; R-HSA-6804759; Regulation of TP53 Activity through Association with Co-factors.
DR Reactome; R-HSA-6804760; Regulation of TP53 Activity through Methylation.
DR Reactome; R-HSA-6811555; PI5P Regulates TP53 Acetylation.
DR Reactome; R-HSA-69473; G2/M DNA damage checkpoint.
DR Reactome; R-HSA-69481; G2/M Checkpoints.
DR Reactome; R-HSA-69541; Stabilization of p53.
DR Reactome; R-HSA-69895; Transcriptional activation of cell cycle inhibitor p21.
DR Reactome; R-HSA-8852276; The role of GTSE1 in G2/M progression after G2 checkpoint.
DR Reactome; R-HSA-8853884; Transcriptional Regulation by VENTX.
DR Reactome; R-HSA-8941855; RUNX3 regulates CDKN1A transcription.
DR Reactome; R-HSA-8943724; Regulation of PTEN gene transcription.
DR Reactome; R-HSA-9723905; Loss of function of TP53 in cancer due to loss of tetramerization ability.
DR Reactome; R-HSA-983231; Factors involved in megakaryocyte development and platelet production.
DR SABIO-RK; P04637; -.
DR SignaLink; P04637; -.
DR SIGNOR; P04637; -.
DR BioGRID-ORCS; 7157; 56 hits in 1122 CRISPR screens.
DR ChiTaRS; TP53; human.
DR EvolutionaryTrace; P04637; -.
DR GeneWiki; P53; -.
DR GenomeRNAi; 7157; -.
DR Pharos; P04637; Tchem.
DR PRO; PR:P04637; -.
DR Proteomes; UP000005640; Chromosome 17.
DR RNAct; P04637; protein.
DR Bgee; ENSG00000141510; Expressed in ventricular zone and 142 other tissues.
DR ExpressionAtlas; P04637; baseline and differential.
DR Genevisible; P04637; HS.
DR GO; GO:0005813; C:centrosome; IDA:UniProtKB.
DR GO; GO:0000785; C:chromatin; IDA:BHF-UCL.
DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB.
DR GO; GO:0005829; C:cytosol; IDA:UniProtKB.
DR GO; GO:0005783; C:endoplasmic reticulum; IEA:UniProtKB-SubCell.
DR GO; GO:0043073; C:germ cell nucleus; IEA:Ensembl.
DR GO; GO:0005759; C:mitochondrial matrix; IEA:UniProtKB-SubCell.
DR GO; GO:0005739; C:mitochondrion; IDA:UniProtKB.
DR GO; GO:0016363; C:nuclear matrix; IDA:UniProtKB.
DR GO; GO:0005730; C:nucleolus; IDA:UniProtKB.
DR GO; GO:0005654; C:nucleoplasm; IDA:UniProtKB.
DR GO; GO:0005634; C:nucleus; IDA:UniProtKB.
DR GO; GO:0016605; C:PML body; IDA:UniProtKB.
DR GO; GO:0032991; C:protein-containing complex; IDA:CAFA.
DR GO; GO:0005657; C:replication fork; IEA:Ensembl.
DR GO; GO:0035861; C:site of double-strand break; IEA:Ensembl.
DR GO; GO:0005667; C:transcription regulator complex; IGI:ARUK-UCL.
DR GO; GO:0017053; C:transcription repressor complex; IPI:ComplexPortal.
DR GO; GO:0036310; F:ATP-dependent DNA/DNA annealing activity; IDA:UniProtKB.
DR GO; GO:0051087; F:chaperone binding; IPI:UniProtKB.
DR GO; GO:0003682; F:chromatin binding; IDA:UniProtKB.
DR GO; GO:0000987; F:cis-regulatory region sequence-specific DNA binding; IDA:ARUK-UCL.
DR GO; GO:0005507; F:copper ion binding; IDA:UniProtKB.
DR GO; GO:0001046; F:core promoter sequence-specific DNA binding; IDA:CAFA.
DR GO; GO:0097718; F:disordered domain specific binding; IPI:CAFA.
DR GO; GO:0003677; F:DNA binding; IDA:UniProtKB.
DR GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IDA:GO_Central.
DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:UniProtKB.
DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; IDA:UniProtKB.
DR GO; GO:0001227; F:DNA-binding transcription repressor activity, RNA polymerase II-specific; IDA:ARUK-UCL.
DR GO; GO:0019899; F:enzyme binding; IPI:UniProtKB.
DR GO; GO:0140296; F:general transcription initiation factor binding; IPI:BHF-UCL.
DR GO; GO:0035035; F:histone acetyltransferase binding; IPI:UniProtKB.
DR GO; GO:0042826; F:histone deacetylase binding; IPI:CAFA.
DR GO; GO:0035033; F:histone deacetylase regulator activity; IEA:Ensembl.
DR GO; GO:0042802; F:identical protein binding; IPI:UniProtKB.
DR GO; GO:0097371; F:MDM2/MDM4 family protein binding; IEA:Ensembl.
DR GO; GO:0003730; F:mRNA 3'-UTR binding; IDA:CAFA.
DR GO; GO:0002039; F:p53 binding; IPI:CAFA.
DR GO; GO:1990841; F:promoter-specific chromatin binding; IDA:UniProtKB.
DR GO; GO:0002020; F:protease binding; IPI:UniProtKB.
DR GO; GO:0046982; F:protein heterodimerization activity; IPI:UniProtKB.
DR GO; GO:0019901; F:protein kinase binding; IPI:UniProtKB.
DR GO; GO:0047485; F:protein N-terminus binding; IPI:UniProtKB.
DR GO; GO:0051721; F:protein phosphatase 2A binding; IPI:UniProtKB.
DR GO; GO:0019903; F:protein phosphatase binding; IPI:UniProtKB.
DR GO; GO:0043621; F:protein self-association; IPI:AgBase.
DR GO; GO:0030971; F:receptor tyrosine kinase binding; IPI:BHF-UCL.
DR GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IDA:ARUK-UCL.
DR GO; GO:0061629; F:RNA polymerase II-specific DNA-binding transcription factor binding; IPI:UniProtKB.
DR GO; GO:0001094; F:TFIID-class transcription factor complex binding; IPI:ParkinsonsUK-UCL.
DR GO; GO:0000976; F:transcription cis-regulatory region binding; IDA:BHF-UCL.
DR GO; GO:0031625; F:ubiquitin protein ligase binding; IPI:UniProtKB.
DR GO; GO:0008270; F:zinc ion binding; TAS:UniProtKB.
DR GO; GO:0006914; P:autophagy; IMP:CAFA.
DR GO; GO:0002326; P:B cell lineage commitment; IEA:Ensembl.
DR GO; GO:0048539; P:bone marrow development; IMP:UniProtKB.
DR GO; GO:0010659; P:cardiac muscle cell apoptotic process; IEA:Ensembl.
DR GO; GO:0060411; P:cardiac septum morphogenesis; IEA:Ensembl.
DR GO; GO:0072717; P:cellular response to actinomycin D; IDA:CAFA.
DR GO; GO:0006974; P:cellular response to DNA damage stimulus; IDA:UniProtKB.
DR GO; GO:0071480; P:cellular response to gamma radiation; IDA:CAFA.
DR GO; GO:0042149; P:cellular response to glucose starvation; IDA:UniProtKB.
DR GO; GO:0071456; P:cellular response to hypoxia; IEP:UniProtKB.
DR GO; GO:0071479; P:cellular response to ionizing radiation; IMP:BHF-UCL.
DR GO; GO:0034644; P:cellular response to UV; IDA:CAFA.
DR GO; GO:0071494; P:cellular response to UV-C; IEA:Ensembl.
DR GO; GO:0071466; P:cellular response to xenobiotic stimulus; IEP:UniProtKB.
DR GO; GO:0090398; P:cellular senescence; IMP:GO_Central.
DR GO; GO:0021549; P:cerebellum development; IEA:Ensembl.
DR GO; GO:0031497; P:chromatin assembly; IDA:UniProtKB.
DR GO; GO:0048512; P:circadian behavior; ISS:UniProtKB.
DR GO; GO:0008340; P:determination of adult lifespan; ISS:BHF-UCL.
DR GO; GO:0030330; P:DNA damage response, signal transduction by p53 class mediator; IDA:BHF-UCL.
DR GO; GO:0006977; P:DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest; IMP:CAFA.
DR GO; GO:0006978; P:DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator; IDA:CAFA.
DR GO; GO:0006302; P:double-strand break repair; IEA:Ensembl.
DR GO; GO:0048568; P:embryonic organ development; IEA:Ensembl.
DR GO; GO:0043153; P:entrainment of circadian clock by photoperiod; ISS:UniProtKB.
DR GO; GO:0006983; P:ER overload response; IDA:MGI.
DR GO; GO:0048144; P:fibroblast proliferation; IEA:Ensembl.
DR GO; GO:0007369; P:gastrulation; IEA:Ensembl.
DR GO; GO:0014009; P:glial cell proliferation; IEA:Ensembl.
DR GO; GO:0019661; P:glucose catabolic process to lactate via pyruvate; IEA:Ensembl.
DR GO; GO:0002244; P:hematopoietic progenitor cell differentiation; IMP:UniProtKB.
DR GO; GO:0060218; P:hematopoietic stem cell differentiation; IMP:UniProtKB.
DR GO; GO:0001701; P:in utero embryonic development; IEA:Ensembl.
DR GO; GO:0060333; P:interferon-gamma-mediated signaling pathway; IEA:Ensembl.
DR GO; GO:0097193; P:intrinsic apoptotic signaling pathway; TAS:HGNC-UCL.
DR GO; GO:0072332; P:intrinsic apoptotic signaling pathway by p53 class mediator; IMP:UniProtKB.
DR GO; GO:0042771; P:intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator; IDA:UniProtKB.
DR GO; GO:0070059; P:intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress; IEA:Ensembl.
DR GO; GO:1990144; P:intrinsic apoptotic signaling pathway in response to hypoxia; IEA:Ensembl.
DR GO; GO:0043504; P:mitochondrial DNA repair; IEA:Ensembl.
DR GO; GO:0000423; P:mitophagy; IEA:Ensembl.
DR GO; GO:0031571; P:mitotic G1 DNA damage checkpoint signaling; IMP:BHF-UCL.
DR GO; GO:0009299; P:mRNA transcription; IMP:UniProtKB.
DR GO; GO:0035264; P:multicellular organism growth; IEA:Ensembl.
DR GO; GO:0070266; P:necroptotic process; IEA:Ensembl.
DR GO; GO:0043066; P:negative regulation of apoptotic process; IDA:UniProtKB.
DR GO; GO:0030308; P:negative regulation of cell growth; IMP:UniProtKB.
DR GO; GO:0008285; P:negative regulation of cell population proliferation; IDA:CACAO.
DR GO; GO:0008156; P:negative regulation of DNA replication; IEA:Ensembl.
DR GO; GO:0048147; P:negative regulation of fibroblast proliferation; IMP:UniProtKB.
DR GO; GO:1903451; P:negative regulation of G1 to G0 transition; IDA:CAFA.
DR GO; GO:0060253; P:negative regulation of glial cell proliferation; IEA:Ensembl.
DR GO; GO:1904024; P:negative regulation of glucose catabolic process to lactate via pyruvate; IEA:Ensembl.
DR GO; GO:0051097; P:negative regulation of helicase activity; TAS:UniProtKB.
DR GO; GO:1903799; P:negative regulation of miRNA maturation; IEA:Ensembl.
DR GO; GO:1901525; P:negative regulation of mitophagy; IEA:Ensembl.
DR GO; GO:0007406; P:negative regulation of neuroblast proliferation; IEA:Ensembl.
DR GO; GO:1905856; P:negative regulation of pentose-phosphate shunt; IMP:CACAO.
DR GO; GO:0045861; P:negative regulation of proteolysis; IEA:Ensembl.
DR GO; GO:2000378; P:negative regulation of reactive oxygen species metabolic process; IEA:Ensembl.
DR GO; GO:2000647; P:negative regulation of stem cell proliferation; IEA:Ensembl.
DR GO; GO:0051974; P:negative regulation of telomerase activity; IDA:BHF-UCL.
DR GO; GO:0000122; P:negative regulation of transcription by RNA polymerase II; IDA:ARUK-UCL.
DR GO; GO:0045892; P:negative regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0030512; P:negative regulation of transforming growth factor beta receptor signaling pathway; IEA:Ensembl.
DR GO; GO:0007405; P:neuroblast proliferation; IEA:Ensembl.
DR GO; GO:0051402; P:neuron apoptotic process; IEA:Ensembl.
DR GO; GO:0006289; P:nucleotide-excision repair; IMP:UniProtKB.
DR GO; GO:0097252; P:oligodendrocyte apoptotic process; IDA:UniProtKB.
DR GO; GO:0090403; P:oxidative stress-induced premature senescence; IMP:BHF-UCL.
DR GO; GO:0043065; P:positive regulation of apoptotic process; IDA:UniProtKB.
DR GO; GO:0010666; P:positive regulation of cardiac muscle cell apoptotic process; IEA:Ensembl.
DR GO; GO:2000774; P:positive regulation of cellular senescence; ISS:BHF-UCL.
DR GO; GO:1900119; P:positive regulation of execution phase of apoptosis; IMP:AgBase.
DR GO; GO:0010628; P:positive regulation of gene expression; IDA:CAFA.
DR GO; GO:0031065; P:positive regulation of histone deacetylation; IEA:Ensembl.
DR GO; GO:2001244; P:positive regulation of intrinsic apoptotic signaling pathway; IMP:UniProtKB.
DR GO; GO:1903800; P:positive regulation of miRNA maturation; IDA:BHF-UCL.
DR GO; GO:1902895; P:positive regulation of miRNA transcription; IDA:BHF-UCL.
DR GO; GO:0035794; P:positive regulation of mitochondrial membrane permeability; IEA:Ensembl.
DR GO; GO:0043525; P:positive regulation of neuron apoptotic process; IEA:Ensembl.
DR GO; GO:0050731; P:positive regulation of peptidyl-tyrosine phosphorylation; ISS:BHF-UCL.
DR GO; GO:0062100; P:positive regulation of programmed necrotic cell death; IEA:Ensembl.
DR GO; GO:2000379; P:positive regulation of reactive oxygen species metabolic process; IMP:BHF-UCL.
DR GO; GO:0090200; P:positive regulation of release of cytochrome c from mitochondria; IDA:UniProtKB.
DR GO; GO:0045899; P:positive regulation of RNA polymerase II transcription preinitiation complex assembly; IDA:BHF-UCL.
DR GO; GO:0070245; P:positive regulation of thymocyte apoptotic process; ISS:BHF-UCL.
DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; IDA:UniProtKB.
DR GO; GO:1990440; P:positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress; ISS:ParkinsonsUK-UCL.
DR GO; GO:0061419; P:positive regulation of transcription from RNA polymerase II promoter in response to hypoxia; IEA:Ensembl.
DR GO; GO:0036003; P:positive regulation of transcription from RNA polymerase II promoter in response to stress; IDA:ARUK-UCL.
DR GO; GO:0045893; P:positive regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0006606; P:protein import into nucleus; IEA:Ensembl.
DR GO; GO:0008104; P:protein localization; IDA:UniProtKB.
DR GO; GO:0050821; P:protein stabilization; IEA:Ensembl.
DR GO; GO:0051262; P:protein tetramerization; IEA:InterPro.
DR GO; GO:0065003; P:protein-containing complex assembly; IDA:UniProtKB.
DR GO; GO:0007265; P:Ras protein signal transduction; IEP:BHF-UCL.
DR GO; GO:0072593; P:reactive oxygen species metabolic process; IEA:Ensembl.
DR GO; GO:0042981; P:regulation of apoptotic process; IDA:MGI.
DR GO; GO:0051726; P:regulation of cell cycle; IDA:BHF-UCL.
DR GO; GO:1902749; P:regulation of cell cycle G2/M phase transition; IMP:UniProtKB.
DR GO; GO:0043516; P:regulation of DNA damage response, signal transduction by p53 class mediator; IEA:Ensembl.
DR GO; GO:2000269; P:regulation of fibroblast apoptotic process; IEA:Ensembl.
DR GO; GO:1902253; P:regulation of intrinsic apoptotic signaling pathway by p53 class mediator; IEA:Ensembl.
DR GO; GO:1902108; P:regulation of mitochondrial membrane permeability involved in apoptotic process; IEA:Ensembl.
DR GO; GO:0034103; P:regulation of tissue remodeling; IEA:Ensembl.
DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR GO; GO:1990248; P:regulation of transcription from RNA polymerase II promoter in response to DNA damage; IDA:ARUK-UCL.
DR GO; GO:0006355; P:regulation of transcription, DNA-templated; IDA:UniProtKB.
DR GO; GO:0001836; P:release of cytochrome c from mitochondria; IEA:Ensembl.
DR GO; GO:0090399; P:replicative senescence; IMP:BHF-UCL.
DR GO; GO:0046677; P:response to antibiotic; IEP:UniProtKB.
DR GO; GO:0010332; P:response to gamma radiation; IMP:BHF-UCL.
DR GO; GO:0002931; P:response to ischemia; IEA:Ensembl.
DR GO; GO:0009651; P:response to salt stress; IEA:Ensembl.
DR GO; GO:0010165; P:response to X-ray; IEA:Ensembl.
DR GO; GO:0009303; P:rRNA transcription; IEA:Ensembl.
DR GO; GO:0072331; P:signal transduction by p53 class mediator; IDA:CAFA.
DR GO; GO:0001756; P:somitogenesis; IEA:Ensembl.
DR GO; GO:0072089; P:stem cell proliferation; IEA:Ensembl.
DR GO; GO:0033077; P:T cell differentiation in thymus; IEA:Ensembl.
DR GO; GO:0002360; P:T cell lineage commitment; IEA:Ensembl.
DR GO; GO:0002309; P:T cell proliferation involved in immune response; IEA:Ensembl.
DR GO; GO:0070242; P:thymocyte apoptotic process; IEA:Ensembl.
DR GO; GO:0007179; P:transforming growth factor beta receptor signaling pathway; IEA:Ensembl.
DR GO; GO:0033209; P:tumor necrosis factor-mediated signaling pathway; IGI:BHF-UCL.
DR GO; GO:0016032; P:viral process; IMP:CACAO.
DR CDD; cd08367; P53; 1.
DR DisProt; DP00086; -.
DR Gene3D; 2.60.40.720; -; 1.
DR Gene3D; 4.10.170.10; -; 1.
DR IDEAL; IID00015; -.
DR InterPro; IPR008967; p53-like_TF_DNA-bd.
DR InterPro; IPR012346; p53/RUNT-type_TF_DNA-bd_sf.
DR InterPro; IPR011615; p53_DNA-bd.
DR InterPro; IPR040926; p53_TAD2.
DR InterPro; IPR036674; p53_tetramer_sf.
DR InterPro; IPR010991; p53_tetrameristn.
DR InterPro; IPR013872; p53_transactivation_domain.
DR InterPro; IPR002117; p53_tumour_suppressor.
DR PANTHER; PTHR11447; PTHR11447; 1.
DR Pfam; PF00870; P53; 1.
DR Pfam; PF08563; P53_TAD; 1.
DR Pfam; PF07710; P53_tetramer; 1.
DR Pfam; PF18521; TAD2; 1.
DR PRINTS; PR00386; P53SUPPRESSR.
DR SUPFAM; SSF47719; SSF47719; 1.
DR SUPFAM; SSF49417; SSF49417; 1.
DR PROSITE; PS00348; P53; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Acetylation; Activator; Alternative promoter usage;
KW Alternative splicing; Apoptosis; Biological rhythms; Cell cycle; Cytoplasm;
KW Cytoskeleton; Direct protein sequencing; Disease variant; DNA-binding;
KW Endoplasmic reticulum; Glycoprotein; Host-virus interaction;
KW Isopeptide bond; Li-Fraumeni syndrome; Metal-binding; Methylation;
KW Mitochondrion; Necrosis; Nucleus; Phosphoprotein; Reference proteome;
KW Repressor; Transcription; Transcription regulation; Tumor suppressor;
KW Ubl conjugation; Zinc.
FT CHAIN 1..393
FT /note="Cellular tumor antigen p53"
FT /id="PRO_0000185703"
FT DNA_BIND 102..292
FT /evidence="ECO:0000269|PubMed:16793544,
FT ECO:0000269|PubMed:18996393, ECO:0000269|PubMed:20364130"
FT REGION 1..320
FT /note="Interaction with CCAR2"
FT /evidence="ECO:0000269|PubMed:25732823"
FT REGION 1..83
FT /note="Interaction with HRMT1L2"
FT /evidence="ECO:0000269|PubMed:15186775"
FT REGION 1..44
FT /note="Transcription activation (acidic)"
FT REGION 50..96
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 66..110
FT /note="Interaction with WWOX"
FT REGION 100..370
FT /note="Interaction with HIPK1"
FT /evidence="ECO:0000250"
FT REGION 100..300
FT /note="Required for interaction with ZNF385A"
FT /evidence="ECO:0000269|PubMed:17719541"
FT REGION 113..236
FT /note="Required for interaction with FBXO42"
FT /evidence="ECO:0000269|PubMed:19509332"
FT REGION 116..292
FT /note="Interaction with AXIN1"
FT /evidence="ECO:0000250"
FT REGION 241..248
FT /note="Interaction with the 53BP2 SH3 domain"
FT REGION 256..294
FT /note="Interaction with E4F1"
FT /evidence="ECO:0000269|PubMed:10644996"
FT REGION 273..280
FT /note="Interaction with DNA"
FT REGION 282..325
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 300..393
FT /note="Interaction with CARM1"
FT /evidence="ECO:0000269|PubMed:15186775"
FT REGION 319..360
FT /note="Interaction with HIPK2"
FT REGION 325..356
FT /note="Oligomerization"
FT REGION 351..393
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 359..363
FT /note="Interaction with USP7"
FT REGION 368..387
FT /note="Basic (repression of DNA-binding)"
FT MOTIF 17..25
FT /note="TADI"
FT MOTIF 48..56
FT /note="TADII"
FT MOTIF 305..321
FT /note="Bipartite nuclear localization signal"
FT MOTIF 339..350
FT /note="Nuclear export signal"
FT MOTIF 370..372
FT /note="[KR]-[STA]-K motif"
FT COMPBIAS 64..92
FT /note="Pro residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 282..301
FT /note="Basic and acidic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 305..319
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 366..380
FT /note="Basic residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT BINDING 176
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000269|PubMed:14534297,
FT ECO:0000269|PubMed:16793544, ECO:0000269|PubMed:17015838,
FT ECO:0000269|PubMed:18650397, ECO:0000269|PubMed:19515728,
FT ECO:0000269|PubMed:20142040, ECO:0000269|PubMed:20364130"
FT BINDING 179
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000269|PubMed:14534297,
FT ECO:0000269|PubMed:16793544, ECO:0000269|PubMed:17015838,
FT ECO:0000269|PubMed:18650397, ECO:0000269|PubMed:19515728,
FT ECO:0000269|PubMed:20142040, ECO:0000269|PubMed:20364130"
FT BINDING 238
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000269|PubMed:14534297,
FT ECO:0000269|PubMed:16793544, ECO:0000269|PubMed:17015838,
FT ECO:0000269|PubMed:18650397, ECO:0000269|PubMed:19515728,
FT ECO:0000269|PubMed:20142040, ECO:0000269|PubMed:20364130"
FT BINDING 242
FT /ligand="Zn(2+)"
FT /ligand_id="ChEBI:CHEBI:29105"
FT /evidence="ECO:0000269|PubMed:14534297,
FT ECO:0000269|PubMed:16793544, ECO:0000269|PubMed:17015838,
FT ECO:0000269|PubMed:18650397, ECO:0000269|PubMed:19515728,
FT ECO:0000269|PubMed:20142040, ECO:0000269|PubMed:20364130"
FT SITE 120
FT /note="Interaction with DNA"
FT /evidence="ECO:0000269|PubMed:16793544,
FT ECO:0000269|PubMed:18996393, ECO:0000269|PubMed:20364130"
FT MOD_RES 9
FT /note="Phosphoserine; by HIPK4"
FT /evidence="ECO:0000269|PubMed:18022393"
FT MOD_RES 15
FT /note="Phosphoserine; by CDK5, PRPK, AMPK, NUAK1 and ATM"
FT /evidence="ECO:0000269|PubMed:10570149,
FT ECO:0000269|PubMed:11554766, ECO:0000269|PubMed:15866171,
FT ECO:0000269|PubMed:17108107, ECO:0000269|PubMed:17591690,
FT ECO:0000269|PubMed:17967874, ECO:0000269|PubMed:21317932,
FT ECO:0000269|PubMed:28842590"
FT MOD_RES 18
FT /note="Phosphothreonine; by CK1, VRK1 and VRK2"
FT /evidence="ECO:0000269|PubMed:10606744,
FT ECO:0000269|PubMed:10951572, ECO:0000269|PubMed:16704422"
FT MOD_RES 20
FT /note="Phosphoserine; by CHEK2, CK1 and PLK3"
FT /evidence="ECO:0000269|PubMed:10570149,
FT ECO:0000269|PubMed:11447225, ECO:0000269|PubMed:11551930,
FT ECO:0000269|PubMed:12810724, ECO:0000269|PubMed:20041275"
FT MOD_RES 33
FT /note="Phosphoserine; by CDK5 and CDK7"
FT /evidence="ECO:0000269|PubMed:17591690,
FT ECO:0000269|PubMed:9372954"
FT MOD_RES 37
FT /note="Phosphoserine; by MAPKAPK5"
FT /evidence="ECO:0000269|PubMed:17254968"
FT MOD_RES 46
FT /note="Phosphoserine; by CDK5, DYRK2, HIPK2 and PKC/PRKCG"
FT /evidence="ECO:0000269|PubMed:11740489,
FT ECO:0000269|PubMed:11780126, ECO:0000269|PubMed:16377624,
FT ECO:0000269|PubMed:17349958, ECO:0000269|PubMed:17591690"
FT MOD_RES 55
FT /note="Phosphothreonine; by TAF1 and GRK5"
FT /evidence="ECO:0000269|PubMed:15053879,
FT ECO:0000269|PubMed:20124405"
FT MOD_RES 120
FT /note="N6-acetyllysine; by KAT6A"
FT /evidence="ECO:0000269|PubMed:23431171"
FT MOD_RES 183
FT /note="Phosphoserine; by AURKB"
FT /evidence="ECO:0000269|PubMed:20959462"
FT MOD_RES 269
FT /note="Phosphoserine; by AURKB"
FT /evidence="ECO:0000269|PubMed:20959462"
FT MOD_RES 284
FT /note="Phosphothreonine; by AURKB"
FT /evidence="ECO:0000269|PubMed:20959462"
FT MOD_RES 305
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000269|PubMed:12724314"
FT MOD_RES 315
FT /note="Phosphoserine; by AURKA, CDK1 and CDK2"
FT /evidence="ECO:0000269|PubMed:10884347,
FT ECO:0000269|PubMed:14702041"
FT MOD_RES 321
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000250|UniProtKB:P02340"
FT MOD_RES 333
FT /note="Omega-N-methylarginine; by PRMT5"
FT /evidence="ECO:0000269|PubMed:19011621"
FT MOD_RES 335
FT /note="Symmetric dimethylarginine; by PRMT5"
FT /evidence="ECO:0000269|PubMed:19011621"
FT MOD_RES 337
FT /note="Symmetric dimethylarginine; by PRMT5"
FT /evidence="ECO:0000269|PubMed:19011621"
FT MOD_RES 370
FT /note="N6,N6-dimethyllysine; alternate"
FT /evidence="ECO:0000269|PubMed:17108971,
FT ECO:0000269|PubMed:22864287"
FT MOD_RES 370
FT /note="N6-methyllysine; by SMYD2; alternate"
FT /evidence="ECO:0000269|PubMed:17108971,
FT ECO:0000269|PubMed:22864287"
FT MOD_RES 372
FT /note="N6-methyllysine; by SETD7"
FT /evidence="ECO:0000269|PubMed:15525938,
FT ECO:0000269|PubMed:16415881"
FT MOD_RES 373
FT /note="N6,N6-dimethyllysine; by EHMT1 and EHMT2; alternate"
FT /evidence="ECO:0000269|PubMed:20118233"
FT MOD_RES 373
FT /note="N6-acetyllysine; alternate"
FT /evidence="ECO:0000269|PubMed:10656795"
FT MOD_RES 381
FT /note="N6-acetyllysine"
FT /evidence="ECO:0000269|PubMed:29474172,
FT ECO:0007744|PubMed:19608861"
FT MOD_RES 382
FT /note="N6,N6-dimethyllysine; alternate"
FT /evidence="ECO:0000269|PubMed:17707234,
FT ECO:0000269|PubMed:20870725, ECO:0000269|PubMed:22864287"
FT MOD_RES 382
FT /note="N6-acetyllysine; by KAT6A; alternate"
FT /evidence="ECO:0000269|PubMed:10656795,
FT ECO:0000269|PubMed:15448695, ECO:0000269|PubMed:20228809,
FT ECO:0000269|PubMed:23431171, ECO:0007744|PubMed:19608861"
FT MOD_RES 382
FT /note="N6-methyllysine; by KMT5A; alternate"
FT /evidence="ECO:0000269|PubMed:17707234,
FT ECO:0000269|PubMed:20870725, ECO:0000269|PubMed:22864287"
FT MOD_RES 392
FT /note="Phosphoserine; by CK2, CDK2 and NUAK1"
FT /evidence="ECO:0000269|PubMed:10884347,
FT ECO:0000269|PubMed:11239457, ECO:0000269|PubMed:17108107,
FT ECO:0000269|PubMed:21317932, ECO:0000269|PubMed:22214662"
FT CROSSLNK 24
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in ubiquitin)"
FT /evidence="ECO:0000269|PubMed:21597459"
FT CROSSLNK 291
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in ubiquitin)"
FT /evidence="ECO:0000269|PubMed:19536131"
FT CROSSLNK 292
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in ubiquitin)"
FT /evidence="ECO:0000269|PubMed:19536131"
FT CROSSLNK 386
FT /note="Glycyl lysine isopeptide (Lys-Gly) (interchain with
FT G-Cter in SUMO)"
FT /evidence="ECO:0000269|PubMed:11124955,
FT ECO:0000269|PubMed:22214662, ECO:0000269|Ref.37"
FT VAR_SEQ 1..132
FT /note="Missing (in isoform 7, isoform 8 and isoform 9)"
FT /evidence="ECO:0000303|PubMed:16131611"
FT /id="VSP_040833"
FT VAR_SEQ 1..39
FT /note="Missing (in isoform 4, isoform 5 and isoform 6)"
FT /evidence="ECO:0000305"
FT /id="VSP_040832"
FT VAR_SEQ 332..346
FT /note="IRGRERFEMFRELNE -> MLLDLRWCYFLINSS (in isoform 3,
FT isoform 6 and isoform 9)"
FT /evidence="ECO:0000303|PubMed:16131611"
FT /id="VSP_040560"
FT VAR_SEQ 332..341
FT /note="IRGRERFEMF -> DQTSFQKENC (in isoform 2, isoform 5
FT and isoform 8)"
FT /evidence="ECO:0000303|PubMed:16131611"
FT /id="VSP_006535"
FT VAR_SEQ 342..393
FT /note="Missing (in isoform 2, isoform 5 and isoform 8)"
FT /evidence="ECO:0000303|PubMed:16131611"
FT /id="VSP_006536"
FT VAR_SEQ 347..393
FT /note="Missing (in isoform 3, isoform 6 and isoform 9)"
FT /evidence="ECO:0000303|PubMed:16131611"
FT /id="VSP_040561"
FT VARIANT 5
FT /note="Q -> H (in a sporadic cancer; somatic mutation;
FT abolishes strongly phosphorylation)"
FT /id="VAR_044543"
FT VARIANT 6
FT /note="S -> L (in a sporadic cancer; somatic mutation;
FT reduces interaction with ZNF385A)"
FT /id="VAR_044544"
FT VARIANT 7
FT /note="D -> H (in a sporadic cancer; somatic mutation;
FT dbSNP:rs587782646)"
FT /id="VAR_005851"
FT VARIANT 8
FT /note="P -> S (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044545"
FT VARIANT 10
FT /note="V -> I (in a sporadic cancer; somatic mutation;
FT dbSNP:rs535274413)"
FT /id="VAR_044546"
FT VARIANT 11
FT /note="E -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs201382018)"
FT /id="VAR_044547"
FT VARIANT 11
FT /note="E -> Q (in sporadic cancers; somatic mutation;
FT dbSNP:rs201382018)"
FT /id="VAR_044548"
FT VARIANT 15
FT /note="S -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044549"
FT VARIANT 16
FT /note="Q -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044550"
FT VARIANT 17
FT /note="E -> D (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044551"
FT VARIANT 24
FT /note="K -> N (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044552"
FT VARIANT 28
FT /note="E -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044553"
FT VARIANT 29..30
FT /note="NN -> KD (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047158"
FT VARIANT 31
FT /note="V -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs201753350)"
FT /id="VAR_044554"
FT VARIANT 33
FT /note="S -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044555"
FT VARIANT 34
FT /note="P -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044556"
FT VARIANT 35
FT /note="L -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912661)"
FT /id="VAR_005852"
FT VARIANT 36
FT /note="P -> L (in a sporadic cancer; somatic mutation;
FT dbSNP:rs587781866)"
FT /id="VAR_044557"
FT VARIANT 37
FT /note="S -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044558"
FT VARIANT 37
FT /note="S -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044559"
FT VARIANT 39
FT /note="A -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044560"
FT VARIANT 39
FT /note="A -> V (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1353016807)"
FT /id="VAR_044561"
FT VARIANT 42
FT /note="D -> Y (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044562"
FT VARIANT 43
FT /note="L -> S (in a sporadic cancer; somatic mutation)"
FT /id="VAR_005853"
FT VARIANT 44
FT /note="M -> I (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1060501190)"
FT /id="VAR_044563"
FT VARIANT 44
FT /note="M -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044564"
FT VARIANT 44
FT /note="M -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044565"
FT VARIANT 45
FT /note="L -> M (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044566"
FT VARIANT 46
FT /note="S -> F (in sporadic cancers; somatic mutation)"
FT /id="VAR_044567"
FT VARIANT 46
FT /note="S -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs876659630)"
FT /id="VAR_044568"
FT VARIANT 47
FT /note="P -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044569"
FT VARIANT 47
FT /note="P -> S (in dbSNP:rs1800371)"
FT /evidence="ECO:0000269|Ref.12"
FT /id="VAR_014632"
FT VARIANT 48
FT /note="D -> G (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044570"
FT VARIANT 49
FT /note="D -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs587780728)"
FT /id="VAR_044571"
FT VARIANT 49
FT /note="D -> N (in a sporadic cancer; somatic mutation;
FT dbSNP:rs587780728)"
FT /id="VAR_044572"
FT VARIANT 49
FT /note="D -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_044573"
FT VARIANT 52
FT /note="Q -> H (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044574"
FT VARIANT 53
FT /note="W -> C (in sporadic cancers; somatic mutation)"
FT /id="VAR_005854"
FT VARIANT 53
FT /note="W -> G (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044575"
FT VARIANT 54
FT /note="F -> L (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1555526742)"
FT /id="VAR_044576"
FT VARIANT 54
FT /note="F -> Y (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044577"
FT VARIANT 56
FT /note="E -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_044578"
FT VARIANT 56
FT /note="E -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044579"
FT VARIANT 58
FT /note="P -> Q (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044580"
FT VARIANT 58
FT /note="P -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044581"
FT VARIANT 59
FT /note="G -> C (in sporadic cancers; somatic mutation;
FT dbSNP:rs1237722021)"
FT /id="VAR_044582"
FT VARIANT 59
FT /note="G -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_044583"
FT VARIANT 59
FT /note="G -> N (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045783"
FT VARIANT 60
FT /note="P -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044584"
FT VARIANT 60
FT /note="P -> Q (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044585"
FT VARIANT 60
FT /note="P -> S (in a sporadic cancer; somatic mutation)"
FT /id="VAR_005855"
FT VARIANT 61
FT /note="D -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1460793472)"
FT /id="VAR_044586"
FT VARIANT 61
FT /note="D -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_044587"
FT VARIANT 62
FT /note="E -> D (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044588"
FT VARIANT 63
FT /note="A -> T (in a sporadic cancer; somatic mutation;
FT dbSNP:rs876658902)"
FT /id="VAR_044589"
FT VARIANT 63
FT /note="A -> V (in a sporadic cancer; somatic mutation;
FT dbSNP:rs372201428)"
FT /id="VAR_044590"
FT VARIANT 65
FT /note="R -> T (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1060501210)"
FT /id="VAR_044591"
FT VARIANT 66
FT /note="M -> I (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1555526711)"
FT /id="VAR_044592"
FT VARIANT 66
FT /note="M -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044593"
FT VARIANT 67
FT /note="P -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044594"
FT VARIANT 67
FT /note="P -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044595"
FT VARIANT 67
FT /note="P -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044596"
FT VARIANT 68
FT /note="E -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_044597"
FT VARIANT 68
FT /note="E -> Q (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044598"
FT VARIANT 69
FT /note="A -> D (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044599"
FT VARIANT 69
FT /note="A -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs756233241)"
FT /id="VAR_044600"
FT VARIANT 69
FT /note="A -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044601"
FT VARIANT 69
FT /note="A -> V (in a sporadic cancer; somatic mutation;
FT dbSNP:rs756233241)"
FT /id="VAR_044602"
FT VARIANT 70
FT /note="A -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044603"
FT VARIANT 71
FT /note="P -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044604"
FT VARIANT 72
FT /note="P -> C (in sporadic cancers; somatic mutation;
FT requires 2 nucleotide substitutions; dbSNP:rs730882014)"
FT /id="VAR_045784"
FT VARIANT 72
FT /note="P -> G (in sporadic cancers; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045785"
FT VARIANT 72
FT /note="P -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs1042522)"
FT /id="VAR_045786"
FT VARIANT 72
FT /note="P -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045787"
FT VARIANT 72
FT /note="P -> R (in dbSNP:rs1042522)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:16131611, ECO:0000269|PubMed:1999338,
FT ECO:0000269|Ref.17"
FT /id="VAR_005856"
FT VARIANT 73
FT /note="V -> E (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044605"
FT VARIANT 73
FT /note="V -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044606"
FT VARIANT 73
FT /note="V -> M (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782423)"
FT /id="VAR_044607"
FT VARIANT 74
FT /note="A -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044608"
FT VARIANT 75
FT /note="P -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044609"
FT VARIANT 75
FT /note="P -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044610"
FT VARIANT 75
FT /note="P -> S (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044611"
FT VARIANT 76
FT /note="A -> G (in a sporadic cancer; somatic mutation)"
FT /evidence="ECO:0000269|PubMed:2946935"
FT /id="VAR_044612"
FT VARIANT 76
FT /note="A -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044613"
FT VARIANT 77
FT /note="P -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_044614"
FT VARIANT 78
FT /note="A -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044615"
FT VARIANT 79
FT /note="A -> G (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044616"
FT VARIANT 79
FT /note="A -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_005857"
FT VARIANT 79
FT /note="A -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044617"
FT VARIANT 80
FT /note="P -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044618"
FT VARIANT 80
FT /note="P -> S (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1060501204)"
FT /id="VAR_044619"
FT VARIANT 81
FT /note="T -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_044620"
FT VARIANT 82
FT /note="P -> L (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs534447939)"
FT /id="VAR_044621"
FT VARIANT 82
FT /note="P -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044622"
FT VARIANT 83
FT /note="A -> E (in a sporadic cancer; somatic mutation;
FT dbSNP:rs201717599)"
FT /id="VAR_044623"
FT VARIANT 83
FT /note="A -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs201717599)"
FT /id="VAR_044624"
FT VARIANT 84
FT /note="A -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_044625"
FT VARIANT 84
FT /note="A -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044626"
FT VARIANT 85
FT /note="P -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044627"
FT VARIANT 85
FT /note="P -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044628"
FT VARIANT 86
FT /note="A -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044629"
FT VARIANT 87
FT /note="P -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_005858"
FT VARIANT 88
FT /note="A -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044630"
FT VARIANT 88
FT /note="A -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555526631)"
FT /id="VAR_044631"
FT VARIANT 89
FT /note="P -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs730881994)"
FT /id="VAR_044632"
FT VARIANT 89
FT /note="P -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044633"
FT VARIANT 90
FT /note="S -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555526625)"
FT /id="VAR_044634"
FT VARIANT 90
FT /note="S -> Y (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044635"
FT VARIANT 91
FT /note="W -> C (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044636"
FT VARIANT 92
FT /note="P -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044637"
FT VARIANT 92
FT /note="P -> L (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1210700121)"
FT /id="VAR_044638"
FT VARIANT 92
FT /note="P -> S (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044639"
FT VARIANT 93
FT /note="L -> M (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044640"
FT VARIANT 93
FT /note="L -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044641"
FT VARIANT 94
FT /note="S -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044642"
FT VARIANT 94
FT /note="S -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_005859"
FT VARIANT 95
FT /note="S -> F (in sporadic cancers; somatic mutation)"
FT /id="VAR_044643"
FT VARIANT 95
FT /note="S -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044644"
FT VARIANT 96
FT /note="S -> C (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044645"
FT VARIANT 96
FT /note="S -> F (in sporadic cancers; somatic mutation)"
FT /id="VAR_044646"
FT VARIANT 96
FT /note="S -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044647"
FT VARIANT 97
FT /note="V -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044648"
FT VARIANT 97
FT /note="V -> F (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044649"
FT VARIANT 97
FT /note="V -> I (in familial cancer not matching LFS;
FT germline mutation and in a sporadic cancer; somatic
FT mutation; dbSNP:rs730882023)"
FT /id="VAR_044650"
FT VARIANT 98
FT /note="P -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs1245723119)"
FT /id="VAR_044651"
FT VARIANT 98
FT /note="P -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044652"
FT VARIANT 99
FT /note="S -> F (in sporadic cancers; somatic mutation)"
FT /id="VAR_044653"
FT VARIANT 99
FT /note="S -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044654"
FT VARIANT 100
FT /note="Q -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044655"
FT VARIANT 101
FT /note="K -> N (in a sporadic cancer; somatic mutation;
FT dbSNP:rs878854069)"
FT /id="VAR_044656"
FT VARIANT 101
FT /note="K -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044657"
FT VARIANT 102
FT /note="T -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs786202717)"
FT /id="VAR_044658"
FT VARIANT 104
FT /note="Q -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_044659"
FT VARIANT 104
FT /note="Q -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044660"
FT VARIANT 105
FT /note="G -> C (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation)"
FT /id="VAR_044661"
FT VARIANT 105
FT /note="G -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs587781504)"
FT /id="VAR_044662"
FT VARIANT 105
FT /note="G -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1060501195)"
FT /id="VAR_044663"
FT VARIANT 105
FT /note="G -> S (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1060501195)"
FT /id="VAR_044664"
FT VARIANT 105
FT /note="G -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044665"
FT VARIANT 106
FT /note="S -> G (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044666"
FT VARIANT 106
FT /note="S -> R (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs1555526581)"
FT /id="VAR_044667"
FT VARIANT 107
FT /note="Y -> C (in a sporadic cancer; somatic mutation;
FT dbSNP:rs587782447)"
FT /id="VAR_044668"
FT VARIANT 107
FT /note="Y -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_044669"
FT VARIANT 107
FT /note="Y -> H (in a sporadic cancer; somatic mutation;
FT dbSNP:rs368771578)"
FT /id="VAR_044670"
FT VARIANT 108
FT /note="G -> D (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044671"
FT VARIANT 108
FT /note="G -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782461)"
FT /id="VAR_044672"
FT VARIANT 109
FT /note="F -> C (in sporadic cancers; somatic mutation)"
FT /id="VAR_044673"
FT VARIANT 109
FT /note="F -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044674"
FT VARIANT 109
FT /note="F -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064796722)"
FT /id="VAR_044675"
FT VARIANT 110
FT /note="R -> C (in sporadic cancers; somatic mutation;
FT dbSNP:rs587781371)"
FT /id="VAR_005860"
FT VARIANT 110
FT /note="R -> G (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044676"
FT VARIANT 110
FT /note="R -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs11540654)"
FT /id="VAR_044677"
FT VARIANT 110
FT /note="R -> L (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation; does not induce SNAI1 degradation;
FT dbSNP:rs11540654)"
FT /evidence="ECO:0000269|PubMed:20385133"
FT /id="VAR_005861"
FT VARIANT 110
FT /note="R -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs11540654)"
FT /evidence="ECO:0000269|PubMed:17224074"
FT /id="VAR_005862"
FT VARIANT 110
FT /note="R -> S (in a sporadic cancer; somatic mutation;
FT dbSNP:rs587781371)"
FT /id="VAR_044678"
FT VARIANT 111
FT /note="L -> M (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044679"
FT VARIANT 111
FT /note="L -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519997)"
FT /id="VAR_044680"
FT VARIANT 111
FT /note="L -> Q (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519997)"
FT /id="VAR_044681"
FT VARIANT 111
FT /note="L -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519997)"
FT /id="VAR_044682"
FT VARIANT 112
FT /note="G -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_044683"
FT VARIANT 112
FT /note="G -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs1423803759)"
FT /id="VAR_044684"
FT VARIANT 113
FT /note="F -> C (in sporadic cancers; somatic mutation)"
FT /id="VAR_005863"
FT VARIANT 113
FT /note="F -> G (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045788"
FT VARIANT 113
FT /note="F -> I (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044685"
FT VARIANT 113
FT /note="F -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044686"
FT VARIANT 113
FT /note="F -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044687"
FT VARIANT 113
FT /note="F -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs587781642)"
FT /evidence="ECO:0000269|PubMed:17224074"
FT /id="VAR_033033"
FT VARIANT 115
FT /note="H -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_044688"
FT VARIANT 116
FT /note="S -> C (in sporadic cancers; somatic mutation)"
FT /id="VAR_044689"
FT VARIANT 116
FT /note="S -> F (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044690"
FT VARIANT 116
FT /note="S -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044691"
FT VARIANT 117
FT /note="G -> E (in sporadic cancers; somatic mutation;
FT dbSNP:rs755238756)"
FT /id="VAR_044692"
FT VARIANT 117
FT /note="G -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555526518)"
FT /id="VAR_044693"
FT VARIANT 118
FT /note="T -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044694"
FT VARIANT 118
FT /note="T -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064794141)"
FT /id="VAR_044695"
FT VARIANT 118
FT /note="T -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044696"
FT VARIANT 119
FT /note="A -> D (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044697"
FT VARIANT 119
FT /note="A -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044698"
FT VARIANT 120
FT /note="K -> E (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912658)"
FT /id="VAR_044699"
FT VARIANT 120
FT /note="K -> M (in sporadic cancers; somatic mutation)"
FT /id="VAR_044700"
FT VARIANT 120
FT /note="K -> Q (in a sporadic cancer; somatic mutation;
FT dbSNP:rs121912658)"
FT /id="VAR_044701"
FT VARIANT 120
FT /note="K -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044702"
FT VARIANT 121
FT /note="S -> F (in sporadic cancers; somatic mutation)"
FT /id="VAR_044703"
FT VARIANT 122
FT /note="V -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044704"
FT VARIANT 123
FT /note="T -> I (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1555526486)"
FT /id="VAR_044705"
FT VARIANT 123
FT /note="T -> N (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044706"
FT VARIANT 124
FT /note="C -> G (in a sporadic cancer; somatic mutation;
FT dbSNP:rs730881997)"
FT /id="VAR_044707"
FT VARIANT 124
FT /note="C -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044708"
FT VARIANT 124
FT /note="C -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs730881997)"
FT /id="VAR_044709"
FT VARIANT 124
FT /note="C -> W (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044710"
FT VARIANT 124
FT /note="C -> Y (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044711"
FT VARIANT 125
FT /note="T -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044712"
FT VARIANT 125
FT /note="T -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs786201057)"
FT /id="VAR_044713"
FT VARIANT 125
FT /note="T -> M (in sporadic cancers; somatic mutation;
FT dbSNP:rs786201057)"
FT /id="VAR_005864"
FT VARIANT 125
FT /note="T -> P (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1057520003)"
FT /id="VAR_044714"
FT VARIANT 125
FT /note="T -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs786201057)"
FT /id="VAR_044715"
FT VARIANT 126
FT /note="Y -> C (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs1555526335)"
FT /id="VAR_044716"
FT VARIANT 126
FT /note="Y -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs886039483)"
FT /id="VAR_005865"
FT VARIANT 126
FT /note="Y -> F (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044717"
FT VARIANT 126
FT /note="Y -> G (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045789"
FT VARIANT 126
FT /note="Y -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_044718"
FT VARIANT 126
FT /note="Y -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs886039483)"
FT /id="VAR_005866"
FT VARIANT 126
FT /note="Y -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044719"
FT VARIANT 127
FT /note="S -> C (in a sporadic cancer; somatic mutation;
FT dbSNP:rs730881999)"
FT /id="VAR_044720"
FT VARIANT 127
FT /note="S -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs730881999)"
FT /id="VAR_005867"
FT VARIANT 127
FT /note="S -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_044721"
FT VARIANT 127
FT /note="S -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_044722"
FT VARIANT 127
FT /note="S -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_044723"
FT VARIANT 128
FT /note="P -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_044724"
FT VARIANT 128
FT /note="P -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044725"
FT VARIANT 128
FT /note="P -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044726"
FT VARIANT 128
FT /note="P -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_005868"
FT VARIANT 129
FT /note="A -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_005869"
FT VARIANT 129
FT /note="A -> G (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044727"
FT VARIANT 129
FT /note="A -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs1438095083)"
FT /id="VAR_044728"
FT VARIANT 129
FT /note="A -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs137852792)"
FT /id="VAR_044729"
FT VARIANT 130
FT /note="L -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs863224683)"
FT /id="VAR_044730"
FT VARIANT 130
FT /note="L -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_044731"
FT VARIANT 130
FT /note="L -> I (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044732"
FT VARIANT 130
FT /note="L -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs1131691013)"
FT /id="VAR_044733"
FT VARIANT 130
FT /note="L -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_005870"
FT VARIANT 130
FT /note="L -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs863224683)"
FT /id="VAR_044734"
FT VARIANT 131
FT /note="N -> D (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044735"
FT VARIANT 131
FT /note="N -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_044736"
FT VARIANT 131
FT /note="N -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs1131691037)"
FT /id="VAR_044737"
FT VARIANT 131
FT /note="N -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs769270327)"
FT /id="VAR_005872"
FT VARIANT 131
FT /note="N -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_005871"
FT VARIANT 131
FT /note="N -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044738"
FT VARIANT 131
FT /note="N -> Y (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782160)"
FT /id="VAR_044739"
FT VARIANT 132..133
FT /note="KM -> NL (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047159"
FT VARIANT 132
FT /note="K -> E (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs747342068)"
FT /id="VAR_044740"
FT VARIANT 132
FT /note="K -> L (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045790"
FT VARIANT 132
FT /note="K -> M (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519996)"
FT /id="VAR_005873"
FT VARIANT 132
FT /note="K -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs866775781)"
FT /id="VAR_044741"
FT VARIANT 132
FT /note="K -> Q (in sporadic cancers; somatic mutation;
FT dbSNP:rs747342068)"
FT /evidence="ECO:0000269|PubMed:1694291"
FT /id="VAR_005874"
FT VARIANT 132
FT /note="K -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519996)"
FT /id="VAR_044742"
FT VARIANT 132
FT /note="K -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519996)"
FT /id="VAR_044743"
FT VARIANT 132
FT /note="K -> W (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045791"
FT VARIANT 133
FT /note="M -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064795139)"
FT /id="VAR_044744"
FT VARIANT 133
FT /note="M -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_044745"
FT VARIANT 133
FT /note="M -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044746"
FT VARIANT 133
FT /note="M -> R (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation)"
FT /id="VAR_044747"
FT VARIANT 133
FT /note="M -> T (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs28934873)"
FT /evidence="ECO:0000269|PubMed:1933902"
FT /id="VAR_005875"
FT VARIANT 133
FT /note="M -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057280220)"
FT /id="VAR_044748"
FT VARIANT 134
FT /note="F -> C (in sporadic cancers; somatic mutation;
FT dbSNP:rs780442292)"
FT /id="VAR_044749"
FT VARIANT 134
FT /note="F -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_044750"
FT VARIANT 134
FT /note="F -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs267605077)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036504"
FT VARIANT 134
FT /note="F -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044751"
FT VARIANT 134
FT /note="F -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044752"
FT VARIANT 135
FT /note="C -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs587781991)"
FT /id="VAR_005877"
FT VARIANT 135
FT /note="C -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519975)"
FT /id="VAR_044753"
FT VARIANT 135
FT /note="C -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519975)"
FT /id="VAR_044754"
FT VARIANT 135
FT /note="C -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519975)"
FT /id="VAR_005876"
FT VARIANT 135
FT /note="C -> T (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045792"
FT VARIANT 135
FT /note="C -> W (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519976)"
FT /id="VAR_044755"
FT VARIANT 135
FT /note="C -> Y (in sporadic cancers; somatic mutation;
FT decreased E6-mediated binding to E6-AP; dbSNP:rs587781991)"
FT /id="VAR_044756"
FT VARIANT 136
FT /note="Q -> E (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555526268)"
FT /id="VAR_005878"
FT VARIANT 136
FT /note="Q -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs758781593)"
FT /id="VAR_044757"
FT VARIANT 136
FT /note="Q -> K (in a sporadic cancer; somatic mutation)"
FT /id="VAR_005879"
FT VARIANT 136
FT /note="Q -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_044758"
FT VARIANT 136
FT /note="Q -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044759"
FT VARIANT 137
FT /note="L -> M (in sporadic cancers; somatic mutation)"
FT /id="VAR_044760"
FT VARIANT 137
FT /note="L -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_044761"
FT VARIANT 137
FT /note="L -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_005880"
FT VARIANT 137
FT /note="L -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044762"
FT VARIANT 138
FT /note="A -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_044763"
FT VARIANT 138
FT /note="A -> P (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs28934875)"
FT /id="VAR_005881"
FT VARIANT 138
FT /note="A -> S (in LFS; germline mutation)"
FT /id="VAR_044764"
FT VARIANT 138
FT /note="A -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_044765"
FT VARIANT 138
FT /note="A -> V (in sporadic cancers; somatic mutation; no
FT effect on susceptibility to calpain; dbSNP:rs750600586)"
FT /evidence="ECO:0000269|PubMed:17224074,
FT ECO:0000269|PubMed:27657329"
FT /id="VAR_033034"
FT VARIANT 139
FT /note="K -> E (in sporadic cancers; somatic mutation;
FT dbSNP:rs1212996409)"
FT /id="VAR_044766"
FT VARIANT 139
FT /note="K -> N (in sporadic cancers; somatic mutation)"
FT /evidence="ECO:0000269|PubMed:14660794"
FT /id="VAR_005882"
FT VARIANT 139
FT /note="K -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_044767"
FT VARIANT 139
FT /note="K -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044768"
FT VARIANT 139
FT /note="K -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_044769"
FT VARIANT 140
FT /note="T -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_044770"
FT VARIANT 140
FT /note="T -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_044771"
FT VARIANT 140
FT /note="T -> N (in a sporadic cancer; somatic mutation;
FT dbSNP:rs786202561)"
FT /id="VAR_044772"
FT VARIANT 140
FT /note="T -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044773"
FT VARIANT 140
FT /note="T -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044774"
FT VARIANT 141
FT /note="C -> A (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045793"
FT VARIANT 141
FT /note="C -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs587781288)"
FT /id="VAR_005885"
FT VARIANT 141
FT /note="C -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519978)"
FT /id="VAR_005884"
FT VARIANT 141
FT /note="C -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519978)"
FT /id="VAR_044775"
FT VARIANT 141
FT /note="C -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519978)"
FT /id="VAR_044776"
FT VARIANT 141
FT /note="C -> W (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519977)"
FT /id="VAR_044777"
FT VARIANT 141
FT /note="C -> Y (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs587781288)"
FT /id="VAR_005886"
FT VARIANT 142
FT /note="P -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_044778"
FT VARIANT 142
FT /note="P -> F (in sporadic cancers; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045794"
FT VARIANT 142
FT /note="P -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_044779"
FT VARIANT 142
FT /note="P -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs779196500)"
FT /id="VAR_044780"
FT VARIANT 142
FT /note="P -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044781"
FT VARIANT 142
FT /note="P -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044782"
FT VARIANT 142
FT /note="P -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_044783"
FT VARIANT 143
FT /note="V -> A (in sporadic cancers; somatic mutation;
FT strong DNA binding ability at 32.5 degrees Celsius; strong
FT reduction of transcriptional activity at 37.5 degrees
FT Celsius; severely represses interaction with ZNF385A)"
FT /evidence="ECO:0000269|PubMed:17719541,
FT ECO:0000269|PubMed:8013454"
FT /id="VAR_005887"
FT VARIANT 143
FT /note="V -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_044784"
FT VARIANT 143
FT /note="V -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555526241)"
FT /id="VAR_044785"
FT VARIANT 143
FT /note="V -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782620)"
FT /id="VAR_044786"
FT VARIANT 143
FT /note="V -> M (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782620)"
FT /id="VAR_044787"
FT VARIANT 144
FT /note="Q -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs786201419)"
FT /id="VAR_044788"
FT VARIANT 144
FT /note="Q -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_044789"
FT VARIANT 144
FT /note="Q -> L (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs786203071)"
FT /id="VAR_044790"
FT VARIANT 144
FT /note="Q -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs786203071)"
FT /id="VAR_005888"
FT VARIANT 144
FT /note="Q -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044791"
FT VARIANT 145
FT /note="L -> M (in sporadic cancers; somatic mutation)"
FT /id="VAR_044792"
FT VARIANT 145
FT /note="L -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782197)"
FT /id="VAR_005889"
FT VARIANT 145
FT /note="L -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_005890"
FT VARIANT 145
FT /note="L -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044793"
FT VARIANT 145
FT /note="L -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044794"
FT VARIANT 146
FT /note="W -> C (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044795"
FT VARIANT 146
FT /note="W -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs786203064)"
FT /id="VAR_044796"
FT VARIANT 146
FT /note="W -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044797"
FT VARIANT 146
FT /note="W -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044798"
FT VARIANT 146
FT /note="W -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044799"
FT VARIANT 147
FT /note="V -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_044800"
FT VARIANT 147
FT /note="V -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_005891"
FT VARIANT 147
FT /note="V -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_044801"
FT VARIANT 147
FT /note="V -> F (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044802"
FT VARIANT 147
FT /note="V -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1453167097)"
FT /id="VAR_005892"
FT VARIANT 147
FT /note="V -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555526226)"
FT /id="VAR_044803"
FT VARIANT 148
FT /note="D -> A (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1046611742)"
FT /id="VAR_044804"
FT VARIANT 148
FT /note="D -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_044805"
FT VARIANT 148
FT /note="D -> G (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044806"
FT VARIANT 148
FT /note="D -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_044807"
FT VARIANT 148
FT /note="D -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044808"
FT VARIANT 148
FT /note="D -> Y (in sporadic cancers; somatic mutation;
FT dbSNP:rs1131691007)"
FT /id="VAR_044809"
FT VARIANT 149
FT /note="S -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555526214)"
FT /id="VAR_044810"
FT VARIANT 149
FT /note="S -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_005893"
FT VARIANT 149
FT /note="S -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_044811"
FT VARIANT 150
FT /note="T -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044812"
FT VARIANT 150
FT /note="T -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_044813"
FT VARIANT 150
FT /note="T -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_044814"
FT VARIANT 150
FT /note="T -> N (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044815"
FT VARIANT 150
FT /note="T -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044816"
FT VARIANT 150
FT /note="T -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044817"
FT VARIANT 151
FT /note="P -> A (in sporadic cancers; somatic mutation;
FT dbSNP:rs28934874)"
FT /id="VAR_005894"
FT VARIANT 151
FT /note="P -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520000)"
FT /id="VAR_044818"
FT VARIANT 151
FT /note="P -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044819"
FT VARIANT 151
FT /note="P -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520000)"
FT /id="VAR_044820"
FT VARIANT 151
FT /note="P -> S (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs28934874)"
FT /evidence="ECO:0000269|PubMed:7682763"
FT /id="VAR_005895"
FT VARIANT 151
FT /note="P -> T (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs28934874)"
FT /id="VAR_005896"
FT VARIANT 152
FT /note="P -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_044821"
FT VARIANT 152
FT /note="P -> L (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs587782705)"
FT /evidence="ECO:0000269|PubMed:1868473"
FT /id="VAR_005897"
FT VARIANT 152
FT /note="P -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_044822"
FT VARIANT 152
FT /note="P -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044823"
FT VARIANT 152
FT /note="P -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs767328513)"
FT /evidence="ECO:0000269|PubMed:9450901"
FT /id="VAR_005898"
FT VARIANT 152
FT /note="P -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_044824"
FT VARIANT 153
FT /note="P -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_044825"
FT VARIANT 153
FT /note="P -> F (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045795"
FT VARIANT 153
FT /note="P -> H (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044826"
FT VARIANT 153
FT /note="P -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044827"
FT VARIANT 153
FT /note="P -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044828"
FT VARIANT 153
FT /note="P -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064795860)"
FT /id="VAR_044829"
FT VARIANT 153
FT /note="P -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_005899"
FT VARIANT 154
FT /note="G -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_044830"
FT VARIANT 154
FT /note="G -> C (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044831"
FT VARIANT 154
FT /note="G -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs762846821)"
FT /id="VAR_044832"
FT VARIANT 154
FT /note="G -> I (in sporadic cancers; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045796"
FT VARIANT 154
FT /note="G -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs137852789)"
FT /id="VAR_044833"
FT VARIANT 154
FT /note="G -> V (in a brain tumor with no family history;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs762846821)"
FT /evidence="ECO:0000269|PubMed:2263646"
FT /id="VAR_005900"
FT VARIANT 155
FT /note="T -> A (in sporadic cancers; somatic mutation;
FT dbSNP:rs772683278)"
FT /evidence="ECO:0000269|PubMed:1868473"
FT /id="VAR_005901"
FT VARIANT 155
FT /note="T -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_044834"
FT VARIANT 155
FT /note="T -> M (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044835"
FT VARIANT 155
FT /note="T -> N (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs786202752)"
FT /id="VAR_044836"
FT VARIANT 155
FT /note="T -> P (in sporadic cancers; somatic mutation; does
FT not induce SNAI1 degradation)"
FT /evidence="ECO:0000269|PubMed:14660794,
FT ECO:0000269|PubMed:20385133"
FT /id="VAR_044837"
FT VARIANT 155
FT /note="T -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs786202752)"
FT /id="VAR_044838"
FT VARIANT 156
FT /note="R -> C (in sporadic cancers; somatic mutation;
FT dbSNP:rs563378859)"
FT /id="VAR_044839"
FT VARIANT 156
FT /note="R -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_044840"
FT VARIANT 156
FT /note="R -> H (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs371524413)"
FT /id="VAR_044841"
FT VARIANT 156
FT /note="R -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044842"
FT VARIANT 156
FT /note="R -> P (in sporadic cancers; somatic mutation)"
FT /evidence="ECO:0000269|PubMed:7682763"
FT /id="VAR_005902"
FT VARIANT 156
FT /note="R -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044843"
FT VARIANT 157
FT /note="V -> A (in sporadic cancers; somatic mutation;
FT dbSNP:rs1131691023)"
FT /id="VAR_044844"
FT VARIANT 157
FT /note="V -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_005903"
FT VARIANT 157
FT /note="V -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912654)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_005904"
FT VARIANT 157
FT /note="V -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_044845"
FT VARIANT 157
FT /note="V -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912654)"
FT /evidence="ECO:0000269|PubMed:9419979"
FT /id="VAR_012977"
FT VARIANT 157
FT /note="V -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044846"
FT VARIANT 158
FT /note="R -> C (in sporadic cancers; somatic mutation;
FT dbSNP:rs587780068)"
FT /id="VAR_005905"
FT VARIANT 158
FT /note="R -> F (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045797"
FT VARIANT 158
FT /note="R -> G (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation)"
FT /id="VAR_005906"
FT VARIANT 158
FT /note="R -> H (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs587782144)"
FT /id="VAR_005907"
FT VARIANT 158
FT /note="R -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044847"
FT VARIANT 158
FT /note="R -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782144)"
FT /id="VAR_044848"
FT VARIANT 158
FT /note="R -> Q (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044849"
FT VARIANT 158
FT /note="R -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044850"
FT VARIANT 158
FT /note="R -> Y (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045798"
FT VARIANT 159
FT /note="A -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_044851"
FT VARIANT 159
FT /note="A -> F (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions; dbSNP:rs730882022)"
FT /id="VAR_045799"
FT VARIANT 159
FT /note="A -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_044852"
FT VARIANT 159
FT /note="A -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882000)"
FT /id="VAR_044853"
FT VARIANT 159
FT /note="A -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044854"
FT VARIANT 159
FT /note="A -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882000)"
FT /id="VAR_044855"
FT VARIANT 159
FT /note="A -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555526131)"
FT /id="VAR_044856"
FT VARIANT 160..161
FT /note="MA -> IP (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047160"
FT VARIANT 160..161
FT /note="MA -> IS (in sporadic cancers; somatic mutation)"
FT /id="VAR_047161"
FT VARIANT 160..161
FT /note="MA -> IT (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047162"
FT VARIANT 160
FT /note="M -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs772354334)"
FT /id="VAR_005908"
FT VARIANT 160
FT /note="M -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_044857"
FT VARIANT 160
FT /note="M -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044858"
FT VARIANT 160
FT /note="M -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs377274728)"
FT /id="VAR_044859"
FT VARIANT 161
FT /note="A -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064795691)"
FT /id="VAR_044860"
FT VARIANT 161
FT /note="A -> F (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045800"
FT VARIANT 161
FT /note="A -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_044861"
FT VARIANT 161
FT /note="A -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_044862"
FT VARIANT 161
FT /note="A -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_005909"
FT VARIANT 161
FT /note="A -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs193920817)"
FT /id="VAR_044863"
FT VARIANT 161
FT /note="A -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044864"
FT VARIANT 162
FT /note="I -> F (in sporadic cancers; somatic mutation)"
FT /id="VAR_044865"
FT VARIANT 162
FT /note="I -> M (in sporadic cancers; somatic mutation)"
FT /id="VAR_044866"
FT VARIANT 162
FT /note="I -> N (in a breast cancer with no family history;
FT germline mutation and in sporadic cancers; somatic
FT mutation)"
FT /id="VAR_044867"
FT VARIANT 162
FT /note="I -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs587780069)"
FT /id="VAR_005910"
FT VARIANT 162
FT /note="I -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_044868"
FT VARIANT 162
FT /note="I -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_005911"
FT VARIANT 163
FT /note="Y -> C (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs148924904)"
FT /evidence="ECO:0000269|PubMed:16959974,
FT ECO:0000269|PubMed:17224074"
FT /id="VAR_033035"
FT VARIANT 163
FT /note="Y -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs786203436)"
FT /id="VAR_044869"
FT VARIANT 163
FT /note="Y -> F (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044870"
FT VARIANT 163
FT /note="Y -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs786203436)"
FT /evidence="ECO:0000269|PubMed:17224074"
FT /id="VAR_005912"
FT VARIANT 163
FT /note="Y -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs786203436)"
FT /id="VAR_044871"
FT VARIANT 163
FT /note="Y -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044872"
FT VARIANT 164
FT /note="K -> E (in sporadic cancers; somatic mutation;
FT dbSNP:rs879254249)"
FT /id="VAR_044873"
FT VARIANT 164
FT /note="K -> M (in sporadic cancers; somatic mutation)"
FT /id="VAR_044874"
FT VARIANT 164
FT /note="K -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs1131691034)"
FT /id="VAR_005913"
FT VARIANT 164
FT /note="K -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_005914"
FT VARIANT 164
FT /note="K -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044875"
FT VARIANT 164
FT /note="K -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_044876"
FT VARIANT 165
FT /note="Q -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_044877"
FT VARIANT 165
FT /note="Q -> H (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044878"
FT VARIANT 165
FT /note="Q -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_005915"
FT VARIANT 165
FT /note="Q -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_044879"
FT VARIANT 165
FT /note="Q -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_005916"
FT VARIANT 166
FT /note="S -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_044880"
FT VARIANT 166
FT /note="S -> G (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044881"
FT VARIANT 166
FT /note="S -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555526101)"
FT /id="VAR_005917"
FT VARIANT 166
FT /note="S -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_044882"
FT VARIANT 166
FT /note="S -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_044883"
FT VARIANT 167..168
FT /note="QH -> HD (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047163"
FT VARIANT 167..168
FT /note="QH -> YL (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047164"
FT VARIANT 167
FT /note="Q -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_044884"
FT VARIANT 167
FT /note="Q -> K (in LFS; germline mutation and in a sporadic
FT cancer; somatic mutation)"
FT /id="VAR_044885"
FT VARIANT 167
FT /note="Q -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044886"
FT VARIANT 167
FT /note="Q -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044887"
FT VARIANT 168..169
FT /note="HM -> LI (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047165"
FT VARIANT 168
FT /note="H -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_044888"
FT VARIANT 168
FT /note="H -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044889"
FT VARIANT 168
FT /note="H -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_044890"
FT VARIANT 168
FT /note="H -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_044891"
FT VARIANT 168
FT /note="H -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_044892"
FT VARIANT 168
FT /note="H -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs867114783)"
FT /id="VAR_005918"
FT VARIANT 168
FT /note="H -> V (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045801"
FT VARIANT 168
FT /note="H -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_044893"
FT VARIANT 169..170
FT /note="MT -> IS (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047166"
FT VARIANT 169
FT /note="M -> I (in sporadic cancers; somatic mutation)"
FT /evidence="ECO:0000269|PubMed:9450901"
FT /id="VAR_005919"
FT VARIANT 169
FT /note="M -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_044894"
FT VARIANT 169
FT /note="M -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_005920"
FT VARIANT 169
FT /note="M -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044895"
FT VARIANT 170
FT /note="T -> A (in sporadic cancers; somatic mutation;
FT dbSNP:rs587780729)"
FT /id="VAR_044896"
FT VARIANT 170
FT /note="T -> K (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044897"
FT VARIANT 170
FT /note="T -> M (in sporadic cancers; somatic mutation;
FT dbSNP:rs779000871)"
FT /id="VAR_005921"
FT VARIANT 170
FT /note="T -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044898"
FT VARIANT 170
FT /note="T -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_005922"
FT VARIANT 171
FT /note="E -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044899"
FT VARIANT 171
FT /note="E -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_044900"
FT VARIANT 171
FT /note="E -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_044901"
FT VARIANT 171
FT /note="E -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs587781845)"
FT /id="VAR_044902"
FT VARIANT 171
FT /note="E -> Q (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044903"
FT VARIANT 171
FT /note="E -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044904"
FT VARIANT 172
FT /note="V -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_005923"
FT VARIANT 172
FT /note="V -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_044905"
FT VARIANT 172
FT /note="V -> F (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs1131691043)"
FT /id="VAR_044906"
FT VARIANT 172
FT /note="V -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1131691021)"
FT /id="VAR_044907"
FT VARIANT 172
FT /note="V -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_044908"
FT VARIANT 173
FT /note="V -> A (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519747)"
FT /id="VAR_044909"
FT VARIANT 173
FT /note="V -> E (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519747)"
FT /id="VAR_005924"
FT VARIANT 173
FT /note="V -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519747)"
FT /id="VAR_044910"
FT VARIANT 173
FT /note="V -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs876660754)"
FT /id="VAR_005925"
FT VARIANT 173
FT /note="V -> M (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs876660754)"
FT /id="VAR_005926"
FT VARIANT 173
FT /note="V -> W (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045802"
FT VARIANT 174
FT /note="R -> G (in LFS; germline mutation and in a sporadic
FT cancer; somatic mutation; dbSNP:rs864622115)"
FT /id="VAR_044911"
FT VARIANT 174
FT /note="R -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064796681)"
FT /evidence="ECO:0000269|PubMed:7682763"
FT /id="VAR_005927"
FT VARIANT 174
FT /note="R -> M (in sporadic cancers; somatic mutation)"
FT /id="VAR_044912"
FT VARIANT 174
FT /note="R -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044913"
FT VARIANT 174
FT /note="R -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044914"
FT VARIANT 174
FT /note="R -> W (in sporadic cancers; somatic mutation)"
FT /id="VAR_044915"
FT VARIANT 175
FT /note="R -> C (in sporadic cancers; somatic mutation;
FT dbSNP:rs138729528)"
FT /id="VAR_005928"
FT VARIANT 175
FT /note="R -> G (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs138729528)"
FT /id="VAR_005929"
FT VARIANT 175
FT /note="R -> H (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; does not induce SNAI1
FT degradation; reduces interaction with ZNF385A; loss of
FT susceptibility to calpain; dbSNP:rs28934578)"
FT /evidence="ECO:0000269|PubMed:16959974,
FT ECO:0000269|PubMed:17719541, ECO:0000269|PubMed:1868473,
FT ECO:0000269|PubMed:20385133, ECO:0000269|PubMed:27657329,
FT ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920"
FT /id="VAR_005932"
FT VARIANT 175
FT /note="R -> L (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs28934578)"
FT /id="VAR_005930"
FT VARIANT 175
FT /note="R -> P (in sporadic cancers; somatic mutation)"
FT /evidence="ECO:0000269|PubMed:17719541"
FT /id="VAR_005931"
FT VARIANT 175
FT /note="R -> Q (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044916"
FT VARIANT 175
FT /note="R -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044917"
FT VARIANT 176..177
FT /note="CP -> FS (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047167"
FT VARIANT 176
FT /note="C -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs786202962)"
FT /evidence="ECO:0000269|PubMed:1394225,
FT ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627,
FT ECO:0000269|PubMed:9450901"
FT /id="VAR_005933"
FT VARIANT 176
FT /note="C -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_044918"
FT VARIANT 176
FT /note="C -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044919"
FT VARIANT 176
FT /note="C -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs967461896)"
FT /id="VAR_044920"
FT VARIANT 176
FT /note="C -> W (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519980)"
FT /id="VAR_005934"
FT VARIANT 176
FT /note="C -> Y (in sporadic cancers; somatic mutation;
FT dbSNP:rs786202962)"
FT /id="VAR_044921"
FT VARIANT 177
FT /note="P -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044922"
FT VARIANT 177
FT /note="P -> F (in sporadic cancers; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045803"
FT VARIANT 177
FT /note="P -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_044923"
FT VARIANT 177
FT /note="P -> I (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045804"
FT VARIANT 177
FT /note="P -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs751477326)"
FT /id="VAR_005935"
FT VARIANT 177
FT /note="P -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs751477326)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036505"
FT VARIANT 177
FT /note="P -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs147002414)"
FT /id="VAR_044924"
FT VARIANT 177
FT /note="P -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044925"
FT VARIANT 178..179
FT /note="HH -> QS (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047168"
FT VARIANT 178
FT /note="H -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_044926"
FT VARIANT 178
FT /note="H -> HPHP (in a Burkitt lymphoma)"
FT /evidence="ECO:0000269|PubMed:1303181"
FT /id="VAR_005936"
FT VARIANT 178
FT /note="H -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044927"
FT VARIANT 178
FT /note="H -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064795203)"
FT /id="VAR_044928"
FT VARIANT 178
FT /note="H -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555526004)"
FT /id="VAR_044929"
FT VARIANT 178
FT /note="H -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_044930"
FT VARIANT 178
FT /note="H -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044931"
FT VARIANT 178
FT /note="H -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_044932"
FT VARIANT 179
FT /note="H -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs587780070)"
FT /id="VAR_044933"
FT VARIANT 179
FT /note="H -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519991)"
FT /id="VAR_044934"
FT VARIANT 179
FT /note="H -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs587780070)"
FT /id="VAR_044935"
FT VARIANT 179
FT /note="H -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519991)"
FT /id="VAR_044936"
FT VARIANT 179
FT /note="H -> Q (in sporadic cancers; somatic mutation;
FT dbSNP:rs876660821)"
FT /id="VAR_044937"
FT VARIANT 179
FT /note="H -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519991)"
FT /id="VAR_044938"
FT VARIANT 179
FT /note="H -> Y (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs587780070)"
FT /id="VAR_044939"
FT VARIANT 180
FT /note="E -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044940"
FT VARIANT 180
FT /note="E -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_044941"
FT VARIANT 180
FT /note="E -> G (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044942"
FT VARIANT 180
FT /note="E -> K (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs879253911)"
FT /id="VAR_044943"
FT VARIANT 180
FT /note="E -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_044944"
FT VARIANT 180
FT /note="E -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044945"
FT VARIANT 181
FT /note="R -> C (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs587782596)"
FT /id="VAR_044946"
FT VARIANT 181
FT /note="R -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_044947"
FT VARIANT 181
FT /note="R -> H (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs397514495)"
FT /id="VAR_044948"
FT VARIANT 181
FT /note="R -> L (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs397514495)"
FT /id="VAR_005937"
FT VARIANT 181
FT /note="R -> P (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation)"
FT /id="VAR_044949"
FT VARIANT 181
FT /note="R -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782596)"
FT /id="VAR_044950"
FT VARIANT 182
FT /note="C -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044951"
FT VARIANT 182
FT /note="C -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_005938"
FT VARIANT 182
FT /note="C -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_044952"
FT VARIANT 183
FT /note="S -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555525970)"
FT /id="VAR_044953"
FT VARIANT 183
FT /note="S -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_044954"
FT VARIANT 184
FT /note="D -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1060501209)"
FT /id="VAR_044955"
FT VARIANT 184
FT /note="D -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_044956"
FT VARIANT 184
FT /note="D -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs72661117)"
FT /id="VAR_047169"
FT VARIANT 184
FT /note="D -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044957"
FT VARIANT 184
FT /note="D -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_005939"
FT VARIANT 185
FT /note="S -> C (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044958"
FT VARIANT 185
FT /note="S -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_044959"
FT VARIANT 185
FT /note="S -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_044960"
FT VARIANT 185
FT /note="S -> N (in a sporadic cancer; somatic mutation;
FT dbSNP:rs150607408)"
FT /id="VAR_044961"
FT VARIANT 185
FT /note="S -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044962"
FT VARIANT 185
FT /note="S -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044963"
FT VARIANT 186
FT /note="D -> E (in a sporadic cancer; somatic mutation;
FT dbSNP:rs375275361)"
FT /id="VAR_044964"
FT VARIANT 186
FT /note="D -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_044965"
FT VARIANT 186
FT /note="D -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_044966"
FT VARIANT 186
FT /note="D -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs1060501206)"
FT /id="VAR_044967"
FT VARIANT 186
FT /note="D -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044968"
FT VARIANT 186
FT /note="D -> Y (in a sporadic cancer; somatic mutation)"
FT /id="VAR_005940"
FT VARIANT 187
FT /note="G -> C (in sporadic cancers; somatic mutation)"
FT /id="VAR_005941"
FT VARIANT 187
FT /note="G -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_044969"
FT VARIANT 187
FT /note="G -> N (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045805"
FT VARIANT 187
FT /note="G -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_044970"
FT VARIANT 187
FT /note="G -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs776167460)"
FT /id="VAR_005942"
FT VARIANT 187
FT /note="G -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044971"
FT VARIANT 188
FT /note="L -> P (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1199893366)"
FT /id="VAR_044972"
FT VARIANT 188
FT /note="L -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_044973"
FT VARIANT 189
FT /note="A -> D (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044974"
FT VARIANT 189
FT /note="A -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_044975"
FT VARIANT 189
FT /note="A -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_005943"
FT VARIANT 189
FT /note="A -> S (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1555525921)"
FT /id="VAR_044976"
FT VARIANT 189
FT /note="A -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_044977"
FT VARIANT 189
FT /note="A -> V (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs121912665)"
FT /id="VAR_044978"
FT VARIANT 190
FT /note="P -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_044979"
FT VARIANT 190
FT /note="P -> H (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044980"
FT VARIANT 190
FT /note="P -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs876660825)"
FT /id="VAR_005944"
FT VARIANT 190
FT /note="P -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs876660825)"
FT /id="VAR_044981"
FT VARIANT 190
FT /note="P -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_044982"
FT VARIANT 190
FT /note="P -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs876660254)"
FT /id="VAR_044983"
FT VARIANT 191
FT /note="P -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs587778718)"
FT /id="VAR_044984"
FT VARIANT 191
FT /note="P -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs587778718)"
FT /id="VAR_044985"
FT VARIANT 191
FT /note="P -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs587778718)"
FT /id="VAR_044986"
FT VARIANT 191
FT /note="P -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs868590738)"
FT /id="VAR_044987"
FT VARIANT 191
FT /note="P -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_005945"
FT VARIANT 192..193
FT /note="QH -> HN (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047170"
FT VARIANT 192..193
FT /note="QH -> HY (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047171"
FT VARIANT 192
FT /note="Q -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_044988"
FT VARIANT 192
FT /note="Q -> K (in a sporadic cancer; somatic mutation)"
FT /id="VAR_044989"
FT VARIANT 192
FT /note="Q -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_044990"
FT VARIANT 192
FT /note="Q -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_044991"
FT VARIANT 192
FT /note="Q -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882002)"
FT /id="VAR_005946"
FT VARIANT 193
FT /note="H -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs876658468)"
FT /id="VAR_005947"
FT VARIANT 193
FT /note="H -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs786201838)"
FT /id="VAR_044992"
FT VARIANT 193
FT /note="H -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs876658468)"
FT /id="VAR_044993"
FT VARIANT 193
FT /note="H -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs786201838)"
FT /id="VAR_044994"
FT VARIANT 193
FT /note="H -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_044995"
FT VARIANT 193
FT /note="H -> R (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs786201838)"
FT /evidence="ECO:0000269|PubMed:16959974,
FT ECO:0000269|PubMed:7887414"
FT /id="VAR_005948"
FT VARIANT 193
FT /note="H -> Y (in sporadic cancers; somatic mutation;
FT dbSNP:rs876658468)"
FT /id="VAR_044996"
FT VARIANT 194
FT /note="L -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs587780071)"
FT /id="VAR_044997"
FT VARIANT 194
FT /note="L -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519998)"
FT /id="VAR_044998"
FT VARIANT 194
FT /note="L -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_044999"
FT VARIANT 194
FT /note="L -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519998)"
FT /id="VAR_005949"
FT VARIANT 194
FT /note="L -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519998)"
FT /evidence="ECO:0000269|PubMed:7682763"
FT /id="VAR_005950"
FT VARIANT 194
FT /note="L -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_045000"
FT VARIANT 195
FT /note="I -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs942158624)"
FT /id="VAR_045001"
FT VARIANT 195
FT /note="I -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047172"
FT VARIANT 195
FT /note="I -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs760043106)"
FT /id="VAR_045002"
FT VARIANT 195
FT /note="I -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs760043106)"
FT /id="VAR_045003"
FT VARIANT 195
FT /note="I -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs760043106)"
FT /evidence="ECO:0000269|PubMed:17224074,
FT ECO:0000269|PubMed:9450901"
FT /id="VAR_005951"
FT VARIANT 195
FT /note="I -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045004"
FT VARIANT 195
FT /note="I -> Y (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045806"
FT VARIANT 196
FT /note="R -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs397516435)"
FT /id="VAR_045005"
FT VARIANT 196
FT /note="R -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs483352697)"
FT /id="VAR_045006"
FT VARIANT 196
FT /note="R -> P (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs483352697)"
FT /id="VAR_045007"
FT VARIANT 196
FT /note="R -> Q (in sporadic cancers; somatic mutation;
FT dbSNP:rs483352697)"
FT /id="VAR_045008"
FT VARIANT 196
FT /note="R -> S (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045009"
FT VARIANT 197
FT /note="V -> E (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation)"
FT /id="VAR_045010"
FT VARIANT 197
FT /note="V -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045011"
FT VARIANT 197
FT /note="V -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs786204041)"
FT /id="VAR_045012"
FT VARIANT 197
FT /note="V -> M (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs786204041)"
FT /id="VAR_045013"
FT VARIANT 198
FT /note="E -> D (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045014"
FT VARIANT 198
FT /note="E -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045015"
FT VARIANT 198
FT /note="E -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_005952"
FT VARIANT 198
FT /note="E -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_045016"
FT VARIANT 198
FT /note="E -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045017"
FT VARIANT 199
FT /note="G -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045018"
FT VARIANT 199
FT /note="G -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_045019"
FT VARIANT 199
FT /note="G -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_045020"
FT VARIANT 199
FT /note="G -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555525857)"
FT /id="VAR_045021"
FT VARIANT 200
FT /note="N -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_045022"
FT VARIANT 200
FT /note="N -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045023"
FT VARIANT 200
FT /note="N -> K (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045024"
FT VARIANT 200
FT /note="N -> P (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045807"
FT VARIANT 200
FT /note="N -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045025"
FT VARIANT 200
FT /note="N -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045026"
FT VARIANT 201..202
FT /note="LR -> FC (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047173"
FT VARIANT 201
FT /note="L -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882024)"
FT /id="VAR_045027"
FT VARIANT 201
FT /note="L -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045028"
FT VARIANT 201
FT /note="L -> S (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045029"
FT VARIANT 202
FT /note="R -> C (in sporadic cancers; somatic mutation;
FT dbSNP:rs587780072)"
FT /id="VAR_045030"
FT VARIANT 202
FT /note="R -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs587780072)"
FT /id="VAR_045031"
FT VARIANT 202
FT /note="R -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs587778719)"
FT /id="VAR_045032"
FT VARIANT 202
FT /note="R -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs587778719)"
FT /id="VAR_045033"
FT VARIANT 202
FT /note="R -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_045034"
FT VARIANT 202
FT /note="R -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045035"
FT VARIANT 203..204
FT /note="VE -> LV (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047174"
FT VARIANT 203
FT /note="V -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045036"
FT VARIANT 203
FT /note="V -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_045037"
FT VARIANT 203
FT /note="V -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_045038"
FT VARIANT 203
FT /note="V -> M (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882003)"
FT /id="VAR_045039"
FT VARIANT 203
FT /note="V -> W (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045808"
FT VARIANT 204
FT /note="E -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045040"
FT VARIANT 204
FT /note="E -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_045041"
FT VARIANT 204
FT /note="E -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1260903787)"
FT /id="VAR_045042"
FT VARIANT 204
FT /note="E -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_045043"
FT VARIANT 204
FT /note="E -> Q (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045044"
FT VARIANT 204
FT /note="E -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045045"
FT VARIANT 205
FT /note="Y -> C (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520007)"
FT /evidence="ECO:0000269|PubMed:1459726"
FT /id="VAR_005953"
FT VARIANT 205
FT /note="Y -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520008)"
FT /id="VAR_005954"
FT VARIANT 205
FT /note="Y -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520007)"
FT /id="VAR_047175"
FT VARIANT 205
FT /note="Y -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520008)"
FT /id="VAR_045046"
FT VARIANT 205
FT /note="Y -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520008)"
FT /id="VAR_045047"
FT VARIANT 205
FT /note="Y -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520007)"
FT /id="VAR_045048"
FT VARIANT 206
FT /note="L -> F (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045049"
FT VARIANT 206
FT /note="L -> M (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045050"
FT VARIANT 207..208
FT /note="DD -> EY (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047176"
FT VARIANT 207
FT /note="D -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_045051"
FT VARIANT 207
FT /note="D -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045052"
FT VARIANT 207
FT /note="D -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_045053"
FT VARIANT 207
FT /note="D -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs923100890)"
FT /id="VAR_045054"
FT VARIANT 207
FT /note="D -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045055"
FT VARIANT 207
FT /note="D -> Y (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045056"
FT VARIANT 208
FT /note="D -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_045057"
FT VARIANT 208
FT /note="D -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045058"
FT VARIANT 208
FT /note="D -> H (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045059"
FT VARIANT 208
FT /note="D -> I (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045809"
FT VARIANT 208
FT /note="D -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_045060"
FT VARIANT 208
FT /note="D -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs1464727668)"
FT /id="VAR_045061"
FT VARIANT 208
FT /note="D -> Y (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045062"
FT VARIANT 209
FT /note="R -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045063"
FT VARIANT 209
FT /note="R -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_045064"
FT VARIANT 209
FT /note="R -> S (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045065"
FT VARIANT 209
FT /note="R -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045066"
FT VARIANT 210
FT /note="N -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_045067"
FT VARIANT 210
FT /note="N -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_045068"
FT VARIANT 210
FT /note="N -> I (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045069"
FT VARIANT 210
FT /note="N -> K (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045070"
FT VARIANT 210
FT /note="N -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045071"
FT VARIANT 210
FT /note="N -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045072"
FT VARIANT 210
FT /note="N -> Y (in a familial cancer not matching LFS;
FT germline mutation; dbSNP:rs1060501200)"
FT /id="VAR_045073"
FT VARIANT 211
FT /note="T -> A (in sporadic cancers; somatic mutation;
FT dbSNP:rs1060501198)"
FT /id="VAR_045074"
FT VARIANT 211
FT /note="T -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045075"
FT VARIANT 211
FT /note="T -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_045076"
FT VARIANT 211
FT /note="T -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045077"
FT VARIANT 211
FT /note="T -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045078"
FT VARIANT 212
FT /note="F -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064795766)"
FT /id="VAR_045079"
FT VARIANT 212
FT /note="F -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_045080"
FT VARIANT 212
FT /note="F -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045081"
FT VARIANT 212
FT /note="F -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045082"
FT VARIANT 212
FT /note="F -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_045083"
FT VARIANT 213
FT /note="R -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs397516436)"
FT /id="VAR_045084"
FT VARIANT 213
FT /note="R -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs587778720)"
FT /id="VAR_045085"
FT VARIANT 213
FT /note="R -> P (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs587778720)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036506"
FT VARIANT 213
FT /note="R -> Q (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs587778720)"
FT /id="VAR_005955"
FT VARIANT 213
FT /note="R -> W (in sporadic cancers; somatic mutation)"
FT /id="VAR_045086"
FT VARIANT 214
FT /note="H -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_045087"
FT VARIANT 214
FT /note="H -> P (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1057519992)"
FT /id="VAR_045088"
FT VARIANT 214
FT /note="H -> Q (in sporadic cancers; somatic mutation;
FT dbSNP:rs587781386)"
FT /id="VAR_047177"
FT VARIANT 214
FT /note="H -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519992)"
FT /id="VAR_045089"
FT VARIANT 214
FT /note="H -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_045090"
FT VARIANT 215
FT /note="S -> C (in sporadic cancers; somatic mutation)"
FT /id="VAR_045091"
FT VARIANT 215
FT /note="S -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs886039484)"
FT /id="VAR_045092"
FT VARIANT 215
FT /note="S -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782177)"
FT /id="VAR_045093"
FT VARIANT 215
FT /note="S -> K (in sporadic cancers; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045810"
FT VARIANT 215
FT /note="S -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782177)"
FT /id="VAR_045094"
FT VARIANT 215
FT /note="S -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520001)"
FT /id="VAR_045095"
FT VARIANT 215
FT /note="S -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782177)"
FT /id="VAR_045096"
FT VARIANT 216
FT /note="V -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045097"
FT VARIANT 216
FT /note="V -> E (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520004)"
FT /id="VAR_045098"
FT VARIANT 216
FT /note="V -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520004)"
FT /id="VAR_045099"
FT VARIANT 216
FT /note="V -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882025)"
FT /id="VAR_045100"
FT VARIANT 216
FT /note="V -> M (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882025)"
FT /evidence="ECO:0000269|PubMed:17224074"
FT /id="VAR_005956"
FT VARIANT 216
FT /note="V -> W (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045811"
FT VARIANT 217
FT /note="V -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045101"
FT VARIANT 217
FT /note="V -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_045102"
FT VARIANT 217
FT /note="V -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045103"
FT VARIANT 217
FT /note="V -> I (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045104"
FT VARIANT 217
FT /note="V -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_045105"
FT VARIANT 217
FT /note="V -> M (in dbSNP:rs35163653)"
FT /id="VAR_047178"
FT VARIANT 218
FT /note="V -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045106"
FT VARIANT 218
FT /note="V -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_045107"
FT VARIANT 218
FT /note="V -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555525743)"
FT /id="VAR_045108"
FT VARIANT 218
FT /note="V -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_045109"
FT VARIANT 218
FT /note="V -> M (in sporadic cancers; somatic mutation;
FT dbSNP:rs878854072)"
FT /id="VAR_045110"
FT VARIANT 219
FT /note="P -> C (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045812"
FT VARIANT 219
FT /note="P -> H (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045111"
FT VARIANT 219
FT /note="P -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs1420675064)"
FT /id="VAR_045112"
FT VARIANT 219
FT /note="P -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045113"
FT VARIANT 219
FT /note="P -> S (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs879253894)"
FT /id="VAR_045114"
FT VARIANT 219
FT /note="P -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045115"
FT VARIANT 220
FT /note="Y -> C (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs121912666)"
FT /evidence="ECO:0000269|PubMed:7682763,
FT ECO:0000269|PubMed:9450901"
FT /id="VAR_005957"
FT VARIANT 220
FT /note="Y -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs530941076)"
FT /id="VAR_045116"
FT VARIANT 220
FT /note="Y -> F (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045117"
FT VARIANT 220
FT /note="Y -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs530941076)"
FT /id="VAR_005958"
FT VARIANT 220
FT /note="Y -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs530941076)"
FT /id="VAR_045118"
FT VARIANT 220
FT /note="Y -> S (in a brain tumor with no family history;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs121912666)"
FT /id="VAR_005959"
FT VARIANT 221
FT /note="E -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045119"
FT VARIANT 221
FT /note="E -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_045120"
FT VARIANT 221
FT /note="E -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045121"
FT VARIANT 221
FT /note="E -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs786201592)"
FT /id="VAR_045122"
FT VARIANT 221
FT /note="E -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_045123"
FT VARIANT 222
FT /note="P -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045124"
FT VARIANT 222
FT /note="P -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs146340390)"
FT /id="VAR_045125"
FT VARIANT 222
FT /note="P -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_045126"
FT VARIANT 222
FT /note="P -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045127"
FT VARIANT 222
FT /note="P -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs1060501203)"
FT /id="VAR_045128"
FT VARIANT 222
FT /note="P -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045129"
FT VARIANT 223
FT /note="P -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047179"
FT VARIANT 223
FT /note="P -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs138983188)"
FT /id="VAR_045130"
FT VARIANT 223
FT /note="P -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs138983188)"
FT /id="VAR_045131"
FT VARIANT 223
FT /note="P -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045132"
FT VARIANT 223
FT /note="P -> S (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045133"
FT VARIANT 223
FT /note="P -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045134"
FT VARIANT 224
FT /note="E -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs267605076)"
FT /id="VAR_045135"
FT VARIANT 224
FT /note="E -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045136"
FT VARIANT 224
FT /note="E -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555525707)"
FT /id="VAR_045137"
FT VARIANT 224
FT /note="E -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045138"
FT VARIANT 225
FT /note="V -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045139"
FT VARIANT 225
FT /note="V -> D (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045140"
FT VARIANT 225
FT /note="V -> F (in sporadic cancers; somatic mutation)"
FT /id="VAR_045141"
FT VARIANT 225
FT /note="V -> G (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045142"
FT VARIANT 225
FT /note="V -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045143"
FT VARIANT 225
FT /note="V -> L (in a sporadic cancer; somatic mutation;
FT dbSNP:rs746504075)"
FT /id="VAR_045144"
FT VARIANT 226
FT /note="G -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045145"
FT VARIANT 226
FT /note="G -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_047180"
FT VARIANT 226
FT /note="G -> N (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045844"
FT VARIANT 226
FT /note="G -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045146"
FT VARIANT 226
FT /note="G -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs970212462)"
FT /id="VAR_045147"
FT VARIANT 227
FT /note="S -> C (in sporadic cancers; somatic mutation)"
FT /id="VAR_045148"
FT VARIANT 227
FT /note="S -> F (in sporadic cancers; somatic mutation)"
FT /id="VAR_045149"
FT VARIANT 227
FT /note="S -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045150"
FT VARIANT 227
FT /note="S -> T (in LFS; germline mutation and in a sporadic
FT cancer; somatic mutation)"
FT /id="VAR_045151"
FT VARIANT 228
FT /note="D -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045152"
FT VARIANT 228
FT /note="D -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_005960"
FT VARIANT 228
FT /note="D -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045153"
FT VARIANT 228
FT /note="D -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_045154"
FT VARIANT 228
FT /note="D -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_045155"
FT VARIANT 228
FT /note="D -> P (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045845"
FT VARIANT 228
FT /note="D -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_045156"
FT VARIANT 228
FT /note="D -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_045157"
FT VARIANT 229
FT /note="C -> G (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045158"
FT VARIANT 229
FT /note="C -> N (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045846"
FT VARIANT 229
FT /note="C -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064794312)"
FT /id="VAR_045159"
FT VARIANT 229
FT /note="C -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045160"
FT VARIANT 229
FT /note="C -> Y (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064793603)"
FT /id="VAR_045161"
FT VARIANT 230
FT /note="T -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045162"
FT VARIANT 230
FT /note="T -> I (in sporadic cancers; somatic mutation)"
FT /evidence="ECO:0000269|PubMed:9450901"
FT /id="VAR_005961"
FT VARIANT 230
FT /note="T -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_045163"
FT VARIANT 230
FT /note="T -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_045164"
FT VARIANT 230
FT /note="T -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045165"
FT VARIANT 231
FT /note="T -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045166"
FT VARIANT 231
FT /note="T -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555525564)"
FT /id="VAR_045167"
FT VARIANT 231
FT /note="T -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_045168"
FT VARIANT 231
FT /note="T -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045169"
FT VARIANT 232
FT /note="I -> F (in sporadic cancers; somatic mutation)"
FT /id="VAR_045170"
FT VARIANT 232
FT /note="I -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555525562)"
FT /id="VAR_045171"
FT VARIANT 232
FT /note="I -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_045172"
FT VARIANT 232
FT /note="I -> S (in sporadic cancers; somatic mutation; does
FT not induce SNAI1 degradation)"
FT /evidence="ECO:0000269|PubMed:20385133"
FT /id="VAR_045173"
FT VARIANT 232
FT /note="I -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs587781589)"
FT /id="VAR_005962"
FT VARIANT 232
FT /note="I -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_045174"
FT VARIANT 233
FT /note="H -> D (in LFS; germline mutation and in a sporadic
FT cancer; somatic mutation)"
FT /id="VAR_045175"
FT VARIANT 233
FT /note="H -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_045176"
FT VARIANT 233
FT /note="H -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045177"
FT VARIANT 233
FT /note="H -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_045178"
FT VARIANT 233
FT /note="H -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs879254233)"
FT /id="VAR_047181"
FT VARIANT 233
FT /note="H -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_045179"
FT VARIANT 234
FT /note="Y -> C (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs587780073)"
FT /id="VAR_005963"
FT VARIANT 234
FT /note="Y -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs864622237)"
FT /id="VAR_045180"
FT VARIANT 234
FT /note="Y -> F (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045181"
FT VARIANT 234
FT /note="Y -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs864622237)"
FT /id="VAR_005964"
FT VARIANT 234
FT /note="Y -> K (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045847"
FT VARIANT 234
FT /note="Y -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs864622237)"
FT /id="VAR_045182"
FT VARIANT 234
FT /note="Y -> Q (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045848"
FT VARIANT 234
FT /note="Y -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs587780073)"
FT /id="VAR_045183"
FT VARIANT 235
FT /note="N -> D (in an adrenocortical carcinoma with no
FT family history; germline mutation and in sporadic cancers;
FT somatic mutation)"
FT /id="VAR_047182"
FT VARIANT 235
FT /note="N -> H (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045184"
FT VARIANT 235
FT /note="N -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs144340710)"
FT /id="VAR_045185"
FT VARIANT 235
FT /note="N -> M (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045849"
FT VARIANT 235
FT /note="N -> S (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs144340710)"
FT /id="VAR_045186"
FT VARIANT 235
FT /note="N -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045187"
FT VARIANT 235
FT /note="N -> Y (in sporadic cancers; somatic mutation;
FT dbSNP:rs786204145)"
FT /id="VAR_045188"
FT VARIANT 236
FT /note="Y -> C (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs730882026)"
FT /id="VAR_045189"
FT VARIANT 236
FT /note="Y -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782289)"
FT /id="VAR_045190"
FT VARIANT 236
FT /note="Y -> F (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045191"
FT VARIANT 236
FT /note="Y -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782289)"
FT /id="VAR_045192"
FT VARIANT 236
FT /note="Y -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782289)"
FT /id="VAR_045193"
FT VARIANT 236
FT /note="Y -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882026)"
FT /id="VAR_045194"
FT VARIANT 237
FT /note="M -> I (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; no effect on susceptibility to
FT calpain; dbSNP:rs587782664)"
FT /evidence="ECO:0000269|PubMed:27657329"
FT /id="VAR_005965"
FT VARIANT 237
FT /note="M -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs765848205)"
FT /id="VAR_045195"
FT VARIANT 237
FT /note="M -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_045196"
FT VARIANT 237
FT /note="M -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs765848205)"
FT /id="VAR_045197"
FT VARIANT 237
FT /note="M -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045198"
FT VARIANT 237
FT /note="M -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882004)"
FT /id="VAR_045199"
FT VARIANT 238
FT /note="C -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882005)"
FT /id="VAR_005966"
FT VARIANT 238
FT /note="C -> G (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs1057519981)"
FT /id="VAR_045200"
FT VARIANT 238
FT /note="C -> H (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045850"
FT VARIANT 238
FT /note="C -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519981)"
FT /id="VAR_045201"
FT VARIANT 238
FT /note="C -> S (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs730882005)"
FT /id="VAR_045202"
FT VARIANT 238
FT /note="C -> W (in sporadic cancers; somatic mutation;
FT dbSNP:rs193920789)"
FT /id="VAR_045203"
FT VARIANT 238
FT /note="C -> Y (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs730882005)"
FT /id="VAR_005967"
FT VARIANT 239
FT /note="N -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs876660807)"
FT /id="VAR_045204"
FT VARIANT 239
FT /note="N -> H (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045205"
FT VARIANT 239
FT /note="N -> I (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045206"
FT VARIANT 239
FT /note="N -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057522275)"
FT /id="VAR_045207"
FT VARIANT 239
FT /note="N -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519999)"
FT /id="VAR_045208"
FT VARIANT 239
FT /note="N -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519999)"
FT /id="VAR_045209"
FT VARIANT 239
FT /note="N -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_045210"
FT VARIANT 240
FT /note="S -> C (in sporadic cancers; somatic mutation)"
FT /id="VAR_045211"
FT VARIANT 240
FT /note="S -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045212"
FT VARIANT 240
FT /note="S -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_005968"
FT VARIANT 240
FT /note="S -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_045213"
FT VARIANT 240
FT /note="S -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045214"
FT VARIANT 240
FT /note="S -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_045215"
FT VARIANT 240
FT /note="S -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045216"
FT VARIANT 241
FT /note="S -> A (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520002)"
FT /evidence="ECO:0000269|PubMed:17224074"
FT /id="VAR_033036"
FT VARIANT 241
FT /note="S -> C (in sporadic cancers; somatic mutation;
FT dbSNP:rs28934573)"
FT /id="VAR_045217"
FT VARIANT 241
FT /note="S -> F (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs28934573)"
FT /evidence="ECO:0000269|PubMed:16959974,
FT ECO:0000269|PubMed:1699228"
FT /id="VAR_005969"
FT VARIANT 241
FT /note="S -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520002)"
FT /id="VAR_045218"
FT VARIANT 241
FT /note="S -> T (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation)"
FT /id="VAR_047183"
FT VARIANT 241
FT /note="S -> Y (in sporadic cancers; somatic mutation;
FT dbSNP:rs28934573)"
FT /id="VAR_045219"
FT VARIANT 242
FT /note="C -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912655)"
FT /evidence="ECO:0000269|PubMed:1394225,
FT ECO:0000269|PubMed:16959974"
FT /id="VAR_005970"
FT VARIANT 242
FT /note="C -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519982)"
FT /id="VAR_045220"
FT VARIANT 242
FT /note="C -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_045221"
FT VARIANT 242
FT /note="C -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912655)"
FT /id="VAR_045222"
FT VARIANT 242
FT /note="C -> W (in sporadic cancers; somatic mutation;
FT dbSNP:rs375874539)"
FT /id="VAR_045223"
FT VARIANT 242
FT /note="C -> Y (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs121912655)"
FT /id="VAR_045224"
FT VARIANT 243..244
FT /note="MG -> IC (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047184"
FT VARIANT 243..244
FT /note="MG -> IS (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047185"
FT VARIANT 243
FT /note="M -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045225"
FT VARIANT 243
FT /note="M -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_045226"
FT VARIANT 243
FT /note="M -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs786203117)"
FT /id="VAR_045227"
FT VARIANT 243
FT /note="M -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_045228"
FT VARIANT 243
FT /note="M -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882006)"
FT /id="VAR_045229"
FT VARIANT 243
FT /note="M -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs786203117)"
FT /id="VAR_045230"
FT VARIANT 244
FT /note="G -> A (in sporadic cancers; somatic mutation;
FT dbSNP:rs985033810)"
FT /id="VAR_047186"
FT VARIANT 244
FT /note="G -> C (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519989)"
FT /id="VAR_045231"
FT VARIANT 244
FT /note="G -> D (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs1057517983)"
FT /id="VAR_045232"
FT VARIANT 244
FT /note="G -> E (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045233"
FT VARIANT 244
FT /note="G -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519989)"
FT /id="VAR_045234"
FT VARIANT 244
FT /note="G -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519989)"
FT /id="VAR_045235"
FT VARIANT 244
FT /note="G -> V (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs985033810)"
FT /id="VAR_045236"
FT VARIANT 245
FT /note="G -> A (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912656)"
FT /id="VAR_005971"
FT VARIANT 245
FT /note="G -> C (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs28934575)"
FT /evidence="ECO:0000269|PubMed:1394225,
FT ECO:0000269|PubMed:1978757"
FT /id="VAR_005972"
FT VARIANT 245
FT /note="G -> D (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs121912656)"
FT /evidence="ECO:0000269|PubMed:2259385"
FT /id="VAR_005973"
FT VARIANT 245
FT /note="G -> E (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045237"
FT VARIANT 245
FT /note="G -> F (in sporadic cancers; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045851"
FT VARIANT 245
FT /note="G -> H (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045852"
FT VARIANT 245
FT /note="G -> L (in sporadic cancers; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045853"
FT VARIANT 245
FT /note="G -> N (in sporadic cancers; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045854"
FT VARIANT 245
FT /note="G -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs28934575)"
FT /id="VAR_045238"
FT VARIANT 245
FT /note="G -> S (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs28934575)"
FT /evidence="ECO:0000269|PubMed:8829627"
FT /id="VAR_005974"
FT VARIANT 245
FT /note="G -> V (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs121912656)"
FT /evidence="ECO:0000269|PubMed:2263646"
FT /id="VAR_005975"
FT VARIANT 246
FT /note="M -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs1019340046)"
FT /id="VAR_045239"
FT VARIANT 246
FT /note="M -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_045240"
FT VARIANT 246
FT /note="M -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs483352695)"
FT /id="VAR_044020"
FT VARIANT 246
FT /note="M -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs587780074)"
FT /id="VAR_005976"
FT VARIANT 246
FT /note="M -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs587780074)"
FT /id="VAR_005977"
FT VARIANT 246
FT /note="M -> V (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs483352695)"
FT /id="VAR_005978"
FT VARIANT 247..248
FT /note="NR -> IP (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047187"
FT VARIANT 247..248
FT /note="NR -> KW (in sporadic cancers; somatic mutation)"
FT /id="VAR_047188"
FT VARIANT 247
FT /note="N -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs1452189221)"
FT /id="VAR_045241"
FT VARIANT 247
FT /note="N -> F (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045855"
FT VARIANT 247
FT /note="N -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs786201762)"
FT /id="VAR_005980"
FT VARIANT 247
FT /note="N -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_045242"
FT VARIANT 247
FT /note="N -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs786201762)"
FT /id="VAR_045243"
FT VARIANT 247
FT /note="N -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_047189"
FT VARIANT 247
FT /note="N -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_045244"
FT VARIANT 248
FT /note="R -> C (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045245"
FT VARIANT 248
FT /note="R -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912651)"
FT /id="VAR_005981"
FT VARIANT 248
FT /note="R -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs11540652)"
FT /evidence="ECO:0000269|PubMed:1394225,
FT ECO:0000269|PubMed:7682763"
FT /id="VAR_005982"
FT VARIANT 248
FT /note="R -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs11540652)"
FT /id="VAR_045246"
FT VARIANT 248
FT /note="R -> Q (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs11540652)"
FT /evidence="ECO:0000269|PubMed:16959974,
FT ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763,
FT ECO:0000269|PubMed:7887414"
FT /id="VAR_005983"
FT VARIANT 248
FT /note="R -> W (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; no effect on susceptibility to
FT calpain; dbSNP:rs121912651)"
FT /evidence="ECO:0000269|PubMed:16959974,
FT ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:27657329,
FT ECO:0000269|PubMed:8829627"
FT /id="VAR_005984"
FT VARIANT 249..250
FT /note="RP -> SA (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047190"
FT VARIANT 249..250
FT /note="RP -> SS (in sporadic cancers; somatic mutation)"
FT /id="VAR_047191"
FT VARIANT 249
FT /note="R -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782082)"
FT /id="VAR_005985"
FT VARIANT 249
FT /note="R -> I (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045247"
FT VARIANT 249
FT /note="R -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782329)"
FT /id="VAR_045248"
FT VARIANT 249
FT /note="R -> M (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782329)"
FT /evidence="ECO:0000269|PubMed:17224074"
FT /id="VAR_033037"
FT VARIANT 249
FT /note="R -> N (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045856"
FT VARIANT 249
FT /note="R -> S (in sporadic cancers; somatic mutation; does
FT not induce SNAI1 degradation; dbSNP:rs28934571)"
FT /evidence="ECO:0000269|PubMed:1694291,
FT ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:20385133"
FT /id="VAR_005986"
FT VARIANT 249
FT /note="R -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782329)"
FT /id="VAR_045249"
FT VARIANT 249
FT /note="R -> W (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782082)"
FT /id="VAR_045250"
FT VARIANT 250
FT /note="P -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045251"
FT VARIANT 250
FT /note="P -> F (in sporadic cancers; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045857"
FT VARIANT 250
FT /note="P -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_045252"
FT VARIANT 250
FT /note="P -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064794311)"
FT /id="VAR_047192"
FT VARIANT 250
FT /note="P -> N (in sporadic cancers; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045858"
FT VARIANT 250
FT /note="P -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_045253"
FT VARIANT 250
FT /note="P -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045254"
FT VARIANT 250
FT /note="P -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045255"
FT VARIANT 251
FT /note="I -> F (in sporadic cancers; somatic mutation)"
FT /id="VAR_045256"
FT VARIANT 251
FT /note="I -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882007)"
FT /id="VAR_045257"
FT VARIANT 251
FT /note="I -> M (in LFS; germline mutation;
FT dbSNP:rs878854074)"
FT /id="VAR_045258"
FT VARIANT 251
FT /note="I -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_005987"
FT VARIANT 251
FT /note="I -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882027)"
FT /evidence="ECO:0000269|PubMed:17224074"
FT /id="VAR_033038"
FT VARIANT 251
FT /note="I -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045259"
FT VARIANT 251
FT /note="I -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_045260"
FT VARIANT 252
FT /note="L -> F (in sporadic cancers; somatic mutation)"
FT /id="VAR_045261"
FT VARIANT 252
FT /note="L -> H (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045262"
FT VARIANT 252
FT /note="L -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045263"
FT VARIANT 252
FT /note="L -> P (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs121912653)"
FT /evidence="ECO:0000269|PubMed:1978757"
FT /id="VAR_005988"
FT VARIANT 252
FT /note="L -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045264"
FT VARIANT 253
FT /note="T -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045265"
FT VARIANT 253
FT /note="T -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045266"
FT VARIANT 253
FT /note="T -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555525465)"
FT /id="VAR_045267"
FT VARIANT 253
FT /note="T -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_047193"
FT VARIANT 253
FT /note="T -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045268"
FT VARIANT 254
FT /note="I -> D (in sporadic cancers; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045859"
FT VARIANT 254
FT /note="I -> F (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045269"
FT VARIANT 254
FT /note="I -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045270"
FT VARIANT 254
FT /note="I -> M (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045271"
FT VARIANT 254
FT /note="I -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_017908"
FT VARIANT 254
FT /note="I -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs1330865474)"
FT /id="VAR_045272"
FT VARIANT 254
FT /note="I -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_017909"
FT VARIANT 254
FT /note="I -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs746601313)"
FT /id="VAR_045273"
FT VARIANT 255
FT /note="I -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519995)"
FT /id="VAR_045274"
FT VARIANT 255
FT /note="I -> M (in sporadic cancers; somatic mutation)"
FT /id="VAR_045275"
FT VARIANT 255
FT /note="I -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs876659675)"
FT /id="VAR_045276"
FT VARIANT 255
FT /note="I -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs876659675)"
FT /id="VAR_045277"
FT VARIANT 255
FT /note="I -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs876659675)"
FT /id="VAR_045278"
FT VARIANT 255
FT /note="I -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_045279"
FT VARIANT 256
FT /note="T -> I (in a brain tumor with no family history;
FT germline mutation and in sporadic cancers; somatic
FT mutation)"
FT /id="VAR_045280"
FT VARIANT 256
FT /note="T -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_045281"
FT VARIANT 256
FT /note="T -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_045282"
FT VARIANT 256
FT /note="T -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045283"
FT VARIANT 257
FT /note="L -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_005989"
FT VARIANT 257
FT /note="L -> Q (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs28934577)"
FT /id="VAR_045284"
FT VARIANT 257
FT /note="L -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs28934577)"
FT /id="VAR_045285"
FT VARIANT 257
FT /note="L -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_045286"
FT VARIANT 258
FT /note="E -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045287"
FT VARIANT 258
FT /note="E -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_005990"
FT VARIANT 258
FT /note="E -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1060501201)"
FT /id="VAR_045288"
FT VARIANT 258
FT /note="E -> K (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs121912652)"
FT /evidence="ECO:0000269|PubMed:1978757"
FT /id="VAR_005991"
FT VARIANT 258
FT /note="E -> L (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045860"
FT VARIANT 258
FT /note="E -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_045289"
FT VARIANT 258
FT /note="E -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_045290"
FT VARIANT 259
FT /note="D -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047194"
FT VARIANT 259
FT /note="D -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_045291"
FT VARIANT 259
FT /note="D -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs745425759)"
FT /id="VAR_045292"
FT VARIANT 259
FT /note="D -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_045293"
FT VARIANT 259
FT /note="D -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_045294"
FT VARIANT 259
FT /note="D -> P (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045861"
FT VARIANT 259
FT /note="D -> S (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045862"
FT VARIANT 259
FT /note="D -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_045295"
FT VARIANT 259
FT /note="D -> Y (in sporadic cancers; somatic mutation)"
FT /evidence="ECO:0000269|PubMed:17224074"
FT /id="VAR_033039"
FT VARIANT 260
FT /note="S -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045296"
FT VARIANT 260
FT /note="S -> C (in sporadic cancers; somatic mutation)"
FT /id="VAR_045297"
FT VARIANT 260
FT /note="S -> F (in sporadic cancers; somatic mutation)"
FT /id="VAR_045298"
FT VARIANT 260
FT /note="S -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_045299"
FT VARIANT 260
FT /note="S -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045300"
FT VARIANT 260
FT /note="S -> Y (in sporadic cancers; somatic mutation;
FT dbSNP:rs876658916)"
FT /id="VAR_045301"
FT VARIANT 261
FT /note="S -> C (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045302"
FT VARIANT 261
FT /note="S -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045303"
FT VARIANT 261
FT /note="S -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045304"
FT VARIANT 261
FT /note="S -> N (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045305"
FT VARIANT 261
FT /note="S -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_045306"
FT VARIANT 262..263
FT /note="GN -> PD (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047195"
FT VARIANT 262
FT /note="G -> C (in a sporadic cancer; somatic mutation;
FT dbSNP:rs200579969)"
FT /id="VAR_045307"
FT VARIANT 262
FT /note="G -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_047196"
FT VARIANT 262
FT /note="G -> H (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045863"
FT VARIANT 262
FT /note="G -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs200579969)"
FT /id="VAR_045308"
FT VARIANT 262
FT /note="G -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs1131691025)"
FT /evidence="ECO:0000269|Ref.23"
FT /id="VAR_045309"
FT VARIANT 263
FT /note="N -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs72661119)"
FT /id="VAR_045310"
FT VARIANT 263
FT /note="N -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_045311"
FT VARIANT 263
FT /note="N -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045312"
FT VARIANT 263
FT /note="N -> K (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045313"
FT VARIANT 263
FT /note="N -> S (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045314"
FT VARIANT 264
FT /note="L -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045315"
FT VARIANT 264
FT /note="L -> P (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1555525353)"
FT /id="VAR_045316"
FT VARIANT 264
FT /note="L -> Q (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045317"
FT VARIANT 264
FT /note="L -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_045318"
FT VARIANT 264
FT /note="L -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045319"
FT VARIANT 265
FT /note="L -> M (in sporadic cancers; somatic mutation)"
FT /id="VAR_045320"
FT VARIANT 265
FT /note="L -> P (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs879253942)"
FT /id="VAR_045321"
FT VARIANT 265
FT /note="L -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_045322"
FT VARIANT 265
FT /note="L -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_047197"
FT VARIANT 266
FT /note="G -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045323"
FT VARIANT 266
FT /note="G -> E (in sporadic cancers; somatic mutation;
FT dbSNP:rs193920774)"
FT /id="VAR_045324"
FT VARIANT 266
FT /note="G -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519990)"
FT /id="VAR_045325"
FT VARIANT 266
FT /note="G -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs193920774)"
FT /id="VAR_045326"
FT VARIANT 267
FT /note="R -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045327"
FT VARIANT 267
FT /note="R -> H (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045328"
FT VARIANT 267
FT /note="R -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs587780075)"
FT /id="VAR_045329"
FT VARIANT 267
FT /note="R -> Q (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs587780075)"
FT /id="VAR_045330"
FT VARIANT 267
FT /note="R -> W (in sporadic cancers; somatic mutation;
FT dbSNP:rs55832599)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036507"
FT VARIANT 268
FT /note="N -> F (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045864"
FT VARIANT 268
FT /note="N -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_045331"
FT VARIANT 268
FT /note="N -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045332"
FT VARIANT 268
FT /note="N -> K (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045333"
FT VARIANT 268
FT /note="N -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045334"
FT VARIANT 268
FT /note="N -> Y (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045335"
FT VARIANT 269
FT /note="S -> C (in sporadic cancers; somatic mutation)"
FT /id="VAR_045336"
FT VARIANT 269
FT /note="S -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045337"
FT VARIANT 269
FT /note="S -> I (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047198"
FT VARIANT 269
FT /note="S -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_045338"
FT VARIANT 269
FT /note="S -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_045339"
FT VARIANT 269
FT /note="S -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045340"
FT VARIANT 270
FT /note="F -> C (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519986)"
FT /id="VAR_045341"
FT VARIANT 270
FT /note="F -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519988)"
FT /id="VAR_045342"
FT VARIANT 270
FT /note="F -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519987)"
FT /id="VAR_045343"
FT VARIANT 270
FT /note="F -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519986)"
FT /id="VAR_045344"
FT VARIANT 270
FT /note="F -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519988)"
FT /id="VAR_045345"
FT VARIANT 270
FT /note="F -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_045346"
FT VARIANT 271
FT /note="E -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045347"
FT VARIANT 271
FT /note="E -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_045348"
FT VARIANT 271
FT /note="E -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045349"
FT VARIANT 271
FT /note="E -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs1060501191)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036508"
FT VARIANT 271
FT /note="E -> P (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045865"
FT VARIANT 271
FT /note="E -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_045350"
FT VARIANT 271
FT /note="E -> R (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045866"
FT VARIANT 271
FT /note="E -> V (in an osteosarcoma with no family history;
FT germline mutation and in sporadic cancers; somatic
FT mutation)"
FT /id="VAR_047199"
FT VARIANT 272
FT /note="V -> A (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation)"
FT /id="VAR_045351"
FT VARIANT 272
FT /note="V -> E (in sporadic cancers; somatic mutation;
FT dbSNP:rs876660333)"
FT /id="VAR_045352"
FT VARIANT 272
FT /note="V -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs876660333)"
FT /id="VAR_045353"
FT VARIANT 272
FT /note="V -> L (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs121912657)"
FT /evidence="ECO:0000269|PubMed:1737852"
FT /id="VAR_005992"
FT VARIANT 272
FT /note="V -> M (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912657)"
FT /id="VAR_045354"
FT VARIANT 273
FT /note="R -> C (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs121913343)"
FT /evidence="ECO:0000269|PubMed:16959974,
FT ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414,
FT ECO:0000269|PubMed:9450901"
FT /id="VAR_005993"
FT VARIANT 273
FT /note="R -> G (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation)"
FT /id="VAR_005994"
FT VARIANT 273
FT /note="R -> H (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; abolishes sequence-specific DNA
FT binding; does not induce SNAI1 degradation;
FT dbSNP:rs28934576)"
FT /evidence="ECO:0000269|PubMed:10570149,
FT ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144,
FT ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228,
FT ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:20385133,
FT ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14"
FT /id="VAR_005995"
FT VARIANT 273
FT /note="R -> L (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs28934576)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_036509"
FT VARIANT 273
FT /note="R -> N (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045867"
FT VARIANT 273
FT /note="R -> P (in sporadic cancers; somatic mutation; no
FT effect on susceptibility to calpain; dbSNP:rs28934576)"
FT /evidence="ECO:0000269|PubMed:27657329"
FT /id="VAR_045355"
FT VARIANT 273
FT /note="R -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_045356"
FT VARIANT 273
FT /note="R -> S (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs121913343)"
FT /id="VAR_045357"
FT VARIANT 273
FT /note="R -> Y (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045868"
FT VARIANT 274
FT /note="V -> A (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520006)"
FT /id="VAR_045358"
FT VARIANT 274
FT /note="V -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520006)"
FT /id="VAR_045359"
FT VARIANT 274
FT /note="V -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520005)"
FT /id="VAR_005997"
FT VARIANT 274
FT /note="V -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520006)"
FT /id="VAR_047200"
FT VARIANT 274
FT /note="V -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045360"
FT VARIANT 274
FT /note="V -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057520005)"
FT /id="VAR_045361"
FT VARIANT 275
FT /note="C -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs863224451)"
FT /id="VAR_045362"
FT VARIANT 275
FT /note="C -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045363"
FT VARIANT 275
FT /note="C -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519983)"
FT /id="VAR_045364"
FT VARIANT 275
FT /note="C -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs863224451)"
FT /id="VAR_045365"
FT VARIANT 275
FT /note="C -> W (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555525279)"
FT /id="VAR_005999"
FT VARIANT 275
FT /note="C -> Y (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs863224451)"
FT /evidence="ECO:0000269|PubMed:7887414"
FT /id="VAR_005998"
FT VARIANT 276
FT /note="A -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs786202082)"
FT /id="VAR_045366"
FT VARIANT 276
FT /note="A -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs786202082)"
FT /id="VAR_045367"
FT VARIANT 276
FT /note="A -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs1131691029)"
FT /id="VAR_045368"
FT VARIANT 276
FT /note="A -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045369"
FT VARIANT 276
FT /note="A -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045370"
FT VARIANT 276
FT /note="A -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_045371"
FT VARIANT 277
FT /note="C -> F (in sporadic cancers; somatic mutation;
FT dbSNP:rs763098116)"
FT /id="VAR_045372"
FT VARIANT 277
FT /note="C -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064795369)"
FT /id="VAR_006000"
FT VARIANT 277
FT /note="C -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064795369)"
FT /id="VAR_045373"
FT VARIANT 277
FT /note="C -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045374"
FT VARIANT 277
FT /note="C -> W (in sporadic cancers; somatic mutation)"
FT /id="VAR_047201"
FT VARIANT 277
FT /note="C -> Y (in an osteosarcoma with no family history;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs763098116)"
FT /id="VAR_045375"
FT VARIANT 278
FT /note="P -> A (in sporadic cancers; somatic mutation;
FT dbSNP:rs17849781)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_006001"
FT VARIANT 278
FT /note="P -> F (in sporadic cancers; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045869"
FT VARIANT 278
FT /note="P -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs876659802)"
FT /id="VAR_006002"
FT VARIANT 278
FT /note="P -> L (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs876659802)"
FT /evidence="ECO:0000269|PubMed:2263646"
FT /id="VAR_006003"
FT VARIANT 278
FT /note="P -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs876659802)"
FT /id="VAR_045376"
FT VARIANT 278
FT /note="P -> S (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs17849781)"
FT /evidence="ECO:0000269|PubMed:16959974,
FT ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:9450901"
FT /id="VAR_006004"
FT VARIANT 278
FT /note="P -> T (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs17849781)"
FT /id="VAR_006005"
FT VARIANT 279
FT /note="G -> E (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064793881)"
FT /id="VAR_006006"
FT VARIANT 279
FT /note="G -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555525248)"
FT /id="VAR_045377"
FT VARIANT 279
FT /note="G -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_045378"
FT VARIANT 279
FT /note="G -> W (in sporadic cancers; somatic mutation)"
FT /id="VAR_045379"
FT VARIANT 280
FT /note="R -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs753660142)"
FT /id="VAR_045380"
FT VARIANT 280
FT /note="R -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912660)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_006008"
FT VARIANT 280
FT /note="R -> K (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation; no effect on interaction with CCAR2;
FT dbSNP:rs121912660)"
FT /evidence="ECO:0000269|PubMed:1694291,
FT ECO:0000269|PubMed:25732823"
FT /id="VAR_006007"
FT VARIANT 280
FT /note="R -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045381"
FT VARIANT 280
FT /note="R -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045382"
FT VARIANT 280
FT /note="R -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912660)"
FT /evidence="ECO:0000269|PubMed:1631151"
FT /id="VAR_006009"
FT VARIANT 281..282
FT /note="DR -> EW (in sporadic cancers; somatic mutation)"
FT /id="VAR_047203"
FT VARIANT 281
FT /note="D -> A (in sporadic cancers; somatic mutation;
FT dbSNP:rs587781525)"
FT /id="VAR_006010"
FT VARIANT 281
FT /note="D -> E (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519984)"
FT /evidence="ECO:0000269|PubMed:1459726"
FT /id="VAR_006011"
FT VARIANT 281
FT /note="D -> G (in a brain tumor with no family history;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs587781525)"
FT /id="VAR_006012"
FT VARIANT 281
FT /note="D -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs764146326)"
FT /evidence="ECO:0000269|PubMed:16959974"
FT /id="VAR_006013"
FT VARIANT 281
FT /note="D -> N (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs764146326)"
FT /id="VAR_047202"
FT VARIANT 281
FT /note="D -> R (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045870"
FT VARIANT 281
FT /note="D -> V (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs587781525)"
FT /id="VAR_006014"
FT VARIANT 281
FT /note="D -> Y (in sporadic cancers; somatic mutation;
FT dbSNP:rs764146326)"
FT /id="VAR_045383"
FT VARIANT 282
FT /note="R -> G (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs28934574)"
FT /id="VAR_045384"
FT VARIANT 282
FT /note="R -> H (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045385"
FT VARIANT 282
FT /note="R -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882008)"
FT /id="VAR_006015"
FT VARIANT 282
FT /note="R -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs730882008)"
FT /id="VAR_045386"
FT VARIANT 282
FT /note="R -> Q (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs730882008)"
FT /evidence="ECO:0000269|PubMed:18453682, ECO:0000269|Ref.22"
FT /id="VAR_045387"
FT VARIANT 282
FT /note="R -> W (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; does not induce SNAI1
FT degradation; dbSNP:rs28934574)"
FT /evidence="ECO:0000269|PubMed:20385133,
FT ECO:0000269|PubMed:8829627"
FT /id="VAR_006016"
FT VARIANT 283
FT /note="R -> C (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs149633775)"
FT /id="VAR_006017"
FT VARIANT 283
FT /note="R -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_006018"
FT VARIANT 283
FT /note="R -> H (in a brain tumor with no family history;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs371409680)"
FT /id="VAR_006019"
FT VARIANT 283
FT /note="R -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_045388"
FT VARIANT 283
FT /note="R -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_006020"
FT VARIANT 283
FT /note="R -> S (in a sporadic cancer; somatic mutation;
FT dbSNP:rs149633775)"
FT /id="VAR_045389"
FT VARIANT 284
FT /note="T -> A (in sporadic cancers; somatic mutation)"
FT /evidence="ECO:0000269|PubMed:20959462"
FT /id="VAR_006021"
FT VARIANT 284
FT /note="T -> I (in sporadic cancers; somatic mutation;
FT dbSNP:rs863224685)"
FT /id="VAR_045390"
FT VARIANT 284
FT /note="T -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_045391"
FT VARIANT 284
FT /note="T -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs1204379654)"
FT /id="VAR_006022"
FT VARIANT 285
FT /note="E -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045392"
FT VARIANT 285
FT /note="E -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_045393"
FT VARIANT 285
FT /note="E -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045394"
FT VARIANT 285
FT /note="E -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs112431538)"
FT /evidence="ECO:0000269|PubMed:1459726,
FT ECO:0000269|PubMed:1694291"
FT /id="VAR_006023"
FT VARIANT 285
FT /note="E -> Q (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation)"
FT /id="VAR_006024"
FT VARIANT 285
FT /note="E -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912667)"
FT /id="VAR_006025"
FT VARIANT 286
FT /note="E -> A (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs1057519985)"
FT /id="VAR_006026"
FT VARIANT 286
FT /note="E -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_006027"
FT VARIANT 286
FT /note="E -> G (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519985)"
FT /id="VAR_006028"
FT VARIANT 286
FT /note="E -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs786201059)"
FT /evidence="ECO:0000269|PubMed:11023613,
FT ECO:0000269|PubMed:8316628"
FT /id="VAR_006029"
FT VARIANT 286
FT /note="E -> L (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045871"
FT VARIANT 286
FT /note="E -> Q (in sporadic cancers; somatic mutation;
FT dbSNP:rs786201059)"
FT /evidence="ECO:0000269|PubMed:8829627"
FT /id="VAR_006030"
FT VARIANT 286
FT /note="E -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs1057519985)"
FT /id="VAR_045395"
FT VARIANT 287
FT /note="E -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047204"
FT VARIANT 287
FT /note="E -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs748891343)"
FT /id="VAR_045396"
FT VARIANT 287
FT /note="E -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045397"
FT VARIANT 287
FT /note="E -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782006)"
FT /id="VAR_045398"
FT VARIANT 287
FT /note="E -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_045399"
FT VARIANT 288
FT /note="N -> D (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045400"
FT VARIANT 288
FT /note="N -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_045401"
FT VARIANT 288
FT /note="N -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045402"
FT VARIANT 288
FT /note="N -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045403"
FT VARIANT 288
FT /note="N -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_045404"
FT VARIANT 289
FT /note="L -> F (in sporadic cancers; somatic mutation)"
FT /id="VAR_045405"
FT VARIANT 289
FT /note="L -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_045406"
FT VARIANT 289
FT /note="L -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_045407"
FT VARIANT 289
FT /note="L -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045408"
FT VARIANT 289
FT /note="L -> V (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555525154)"
FT /id="VAR_045409"
FT VARIANT 290
FT /note="R -> C (in sporadic cancers; somatic mutation;
FT dbSNP:rs770374782)"
FT /id="VAR_045410"
FT VARIANT 290
FT /note="R -> H (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs55819519)"
FT /id="VAR_045411"
FT VARIANT 290
FT /note="R -> L (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation)"
FT /id="VAR_045412"
FT VARIANT 291
FT /note="K -> E (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555525126)"
FT /id="VAR_045413"
FT VARIANT 291
FT /note="K -> M (in sporadic cancers; somatic mutation)"
FT /id="VAR_045414"
FT VARIANT 291
FT /note="K -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs372613518)"
FT /id="VAR_045415"
FT VARIANT 291
FT /note="K -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_047205"
FT VARIANT 291
FT /note="K -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs781490101)"
FT /id="VAR_045416"
FT VARIANT 291
FT /note="K -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045417"
FT VARIANT 292
FT /note="K -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_045418"
FT VARIANT 292
FT /note="K -> G (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045872"
FT VARIANT 292
FT /note="K -> I (in LFS; germline mutation and in a sporadic
FT cancer; somatic mutation; dbSNP:rs121912663)"
FT /evidence="ECO:0000269|PubMed:10484981"
FT /id="VAR_015819"
FT VARIANT 292
FT /note="K -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_045419"
FT VARIANT 292
FT /note="K -> Q (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045420"
FT VARIANT 292
FT /note="K -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912663)"
FT /id="VAR_045421"
FT VARIANT 292
FT /note="K -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045422"
FT VARIANT 293
FT /note="G -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045423"
FT VARIANT 293
FT /note="G -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs587780076)"
FT /id="VAR_045424"
FT VARIANT 293
FT /note="G -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_045425"
FT VARIANT 293
FT /note="G -> W (in a brain tumor with no family history;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs587780076)"
FT /id="VAR_045426"
FT VARIANT 294
FT /note="E -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045427"
FT VARIANT 294
FT /note="E -> D (in sporadic cancers; somatic mutation;
FT dbSNP:rs1305324490)"
FT /id="VAR_045428"
FT VARIANT 294
FT /note="E -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045429"
FT VARIANT 294
FT /note="E -> K (in sporadic cancers; somatic mutation)"
FT /id="VAR_047206"
FT VARIANT 294
FT /note="E -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_045430"
FT VARIANT 294
FT /note="E -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_045431"
FT VARIANT 295
FT /note="P -> H (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045432"
FT VARIANT 295
FT /note="P -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs751713111)"
FT /id="VAR_045433"
FT VARIANT 295
FT /note="P -> R (in a sporadic cancer; somatic mutation;
FT dbSNP:rs751713111)"
FT /id="VAR_045434"
FT VARIANT 295
FT /note="P -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs1131691006)"
FT /id="VAR_045435"
FT VARIANT 296
FT /note="H -> C (in sporadic cancers; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045873"
FT VARIANT 296
FT /note="H -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_045436"
FT VARIANT 296
FT /note="H -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_047207"
FT VARIANT 296
FT /note="H -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_045437"
FT VARIANT 296
FT /note="H -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_006031"
FT VARIANT 296
FT /note="H -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_045438"
FT VARIANT 296
FT /note="H -> R (in a sporadic cancer; somatic mutation;
FT dbSNP:rs483352696)"
FT /id="VAR_045439"
FT VARIANT 296
FT /note="H -> Y (in sporadic cancers; somatic mutation;
FT dbSNP:rs672601296)"
FT /id="VAR_045440"
FT VARIANT 297
FT /note="H -> D (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045441"
FT VARIANT 297
FT /note="H -> N (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045442"
FT VARIANT 297
FT /note="H -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_045443"
FT VARIANT 297
FT /note="H -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs876659477)"
FT /id="VAR_045444"
FT VARIANT 297
FT /note="H -> Y (in sporadic cancers; somatic mutation)"
FT /id="VAR_045445"
FT VARIANT 298
FT /note="E -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045446"
FT VARIANT 298
FT /note="E -> D (in sporadic cancers; somatic mutation)"
FT /id="VAR_045447"
FT VARIANT 298
FT /note="E -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs201744589)"
FT /id="VAR_045448"
FT VARIANT 298
FT /note="E -> Q (in sporadic cancers; somatic mutation;
FT dbSNP:rs201744589)"
FT /id="VAR_045449"
FT VARIANT 298
FT /note="E -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_045450"
FT VARIANT 299
FT /note="L -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_045451"
FT VARIANT 299
FT /note="L -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_045452"
FT VARIANT 299
FT /note="L -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045453"
FT VARIANT 299
FT /note="L -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045454"
FT VARIANT 300
FT /note="P -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045455"
FT VARIANT 300
FT /note="P -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs909643864)"
FT /id="VAR_045456"
FT VARIANT 300
FT /note="P -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_006032"
FT VARIANT 300
FT /note="P -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045457"
FT VARIANT 301
FT /note="P -> A (in sporadic cancers; somatic mutation)"
FT /id="VAR_045458"
FT VARIANT 301
FT /note="P -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555525067)"
FT /id="VAR_006033"
FT VARIANT 301
FT /note="P -> Q (in sporadic cancers; somatic mutation)"
FT /id="VAR_045459"
FT VARIANT 301
FT /note="P -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045460"
FT VARIANT 301
FT /note="P -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047208"
FT VARIANT 302
FT /note="G -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045461"
FT VARIANT 302
FT /note="G -> E (in sporadic cancers; somatic mutation;
FT dbSNP:rs1060501202)"
FT /id="VAR_006034"
FT VARIANT 302
FT /note="G -> R (in a sporadic cancer; somatic mutation;
FT dbSNP:rs863224686)"
FT /id="VAR_045462"
FT VARIANT 302
FT /note="G -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_006035"
FT VARIANT 303
FT /note="S -> C (in sporadic cancers; somatic mutation)"
FT /id="VAR_045463"
FT VARIANT 303
FT /note="S -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045464"
FT VARIANT 303
FT /note="S -> N (in sporadic cancers; somatic mutation;
FT dbSNP:rs876658714)"
FT /id="VAR_045465"
FT VARIANT 303
FT /note="S -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045466"
FT VARIANT 304
FT /note="T -> A (in sporadic cancers; somatic mutation;
FT dbSNP:rs587782654)"
FT /id="VAR_045467"
FT VARIANT 304
FT /note="T -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045468"
FT VARIANT 304
FT /note="T -> N (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045469"
FT VARIANT 304
FT /note="T -> S (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047209"
FT VARIANT 305
FT /note="K -> E (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045470"
FT VARIANT 305
FT /note="K -> M (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation)"
FT /id="VAR_045471"
FT VARIANT 305
FT /note="K -> N (in sporadic cancers; somatic mutation; loss
FT of nuclear localization)"
FT /evidence="ECO:0000269|PubMed:10551826"
FT /id="VAR_045472"
FT VARIANT 305
FT /note="K -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_045473"
FT VARIANT 305
FT /note="K -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045474"
FT VARIANT 306
FT /note="R -> P (in LFS; germline mutation and in a sporadic
FT cancer; somatic mutation)"
FT /id="VAR_045475"
FT VARIANT 306
FT /note="R -> Q (in sporadic cancers; somatic mutation;
FT dbSNP:rs1048095040)"
FT /id="VAR_006036"
FT VARIANT 307
FT /note="A -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045476"
FT VARIANT 307
FT /note="A -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045477"
FT VARIANT 307
FT /note="A -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_006037"
FT VARIANT 308
FT /note="L -> M (in sporadic cancers; somatic mutation)"
FT /id="VAR_045478"
FT VARIANT 308
FT /note="L -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045479"
FT VARIANT 309
FT /note="P -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045480"
FT VARIANT 309
FT /note="P -> S (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs1555525012)"
FT /evidence="ECO:0000269|Ref.14"
FT /id="VAR_006038"
FT VARIANT 310
FT /note="N -> I (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045481"
FT VARIANT 310
FT /note="N -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045482"
FT VARIANT 311
FT /note="N -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555525007)"
FT /id="VAR_045483"
FT VARIANT 311
FT /note="N -> K (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045484"
FT VARIANT 311
FT /note="N -> S (in a sporadic cancer; somatic mutation;
FT dbSNP:rs56184981)"
FT /id="VAR_045485"
FT VARIANT 311
FT /note="N -> T (in sporadic cancers; somatic mutation;
FT dbSNP:rs56184981)"
FT /id="VAR_045486"
FT VARIANT 312
FT /note="T -> I (in sporadic cancers; somatic mutation)"
FT /id="VAR_045487"
FT VARIANT 312
FT /note="T -> S (in sporadic cancers; somatic mutation;
FT dbSNP:rs145151284)"
FT /id="VAR_045488"
FT VARIANT 313
FT /note="S -> C (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045489"
FT VARIANT 313
FT /note="S -> I (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045490"
FT VARIANT 313
FT /note="S -> N (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045491"
FT VARIANT 313
FT /note="S -> R (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1367492395)"
FT /id="VAR_045492"
FT VARIANT 314
FT /note="S -> F (in a sporadic cancer; somatic mutation;
FT dbSNP:rs751440465)"
FT /id="VAR_045493"
FT VARIANT 315
FT /note="S -> C (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045494"
FT VARIANT 315
FT /note="S -> F (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045495"
FT VARIANT 315
FT /note="S -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045496"
FT VARIANT 316
FT /note="P -> L (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1555524979)"
FT /id="VAR_045497"
FT VARIANT 316
FT /note="P -> T (in a sporadic cancer; somatic mutation;
FT dbSNP:rs772773208)"
FT /id="VAR_045498"
FT VARIANT 317
FT /note="Q -> H (in a kidney cancer with no family history;
FT germline mutation and in a sporadic cancer; somatic
FT mutation; dbSNP:rs1060501199)"
FT /id="VAR_045499"
FT VARIANT 317
FT /note="Q -> K (in sporadic cancers; somatic mutation;
FT dbSNP:rs764735889)"
FT /id="VAR_045500"
FT VARIANT 317
FT /note="Q -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047210"
FT VARIANT 317
FT /note="Q -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045501"
FT VARIANT 317
FT /note="Q -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1159579789)"
FT /id="VAR_045502"
FT VARIANT 318
FT /note="P -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs1555524975)"
FT /id="VAR_045503"
FT VARIANT 319
FT /note="K -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_045504"
FT VARIANT 319
FT /note="K -> N (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045505"
FT VARIANT 319
FT /note="K -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045506"
FT VARIANT 320
FT /note="K -> N (in sporadic cancers; somatic mutation)"
FT /id="VAR_045507"
FT VARIANT 321
FT /note="K -> E (in kidney cancer; germline mutation)"
FT /id="VAR_045508"
FT VARIANT 321
FT /note="K -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045509"
FT VARIANT 322
FT /note="P -> L (in sporadic cancers; somatic mutation)"
FT /id="VAR_045510"
FT VARIANT 322
FT /note="P -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_045511"
FT VARIANT 323
FT /note="L -> G (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045874"
FT VARIANT 323
FT /note="L -> M (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045512"
FT VARIANT 323
FT /note="L -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045513"
FT VARIANT 323
FT /note="L -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045514"
FT VARIANT 323
FT /note="L -> V (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1432281680)"
FT /id="VAR_047211"
FT VARIANT 324
FT /note="D -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_045515"
FT VARIANT 324
FT /note="D -> S (in a sporadic cancer; somatic mutation;
FT requires 2 nucleotide substitutions)"
FT /id="VAR_045875"
FT VARIANT 324
FT /note="D -> Y (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045516"
FT VARIANT 325
FT /note="G -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045517"
FT VARIANT 325
FT /note="G -> E (in sporadic cancers; somatic mutation)"
FT /id="VAR_045518"
FT VARIANT 325
FT /note="G -> V (in LFS; germline mutation;
FT dbSNP:rs121912659)"
FT /evidence="ECO:0000269|PubMed:1565144"
FT /id="VAR_006039"
FT VARIANT 326
FT /note="E -> G (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045519"
FT VARIANT 327
FT /note="Y -> H (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045520"
FT VARIANT 327
FT /note="Y -> S (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045521"
FT VARIANT 328
FT /note="F -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045522"
FT VARIANT 328
FT /note="F -> S (in sporadic cancers; somatic mutation)"
FT /id="VAR_045523"
FT VARIANT 328
FT /note="F -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045524"
FT VARIANT 329
FT /note="T -> I (in a sporadic cancer; somatic mutation;
FT dbSNP:rs969930693)"
FT /id="VAR_045525"
FT VARIANT 329
FT /note="T -> S (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045526"
FT VARIANT 330
FT /note="L -> H (in sporadic cancers; somatic mutation)"
FT /id="VAR_045527"
FT VARIANT 330
FT /note="L -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047212"
FT VARIANT 330
FT /note="L -> R (in sporadic cancers; somatic mutation)"
FT /id="VAR_045528"
FT VARIANT 331
FT /note="Q -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs11575996)"
FT /id="VAR_045529"
FT VARIANT 331
FT /note="Q -> P (in sporadic cancers; somatic mutation)"
FT /id="VAR_045530"
FT VARIANT 331
FT /note="Q -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs1064795056)"
FT /id="VAR_045531"
FT VARIANT 332
FT /note="I -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045532"
FT VARIANT 334
FT /note="G -> V (in sporadic cancers; somatic mutation)"
FT /id="VAR_006040"
FT VARIANT 334
FT /note="G -> W (in a sporadic cancer; somatic mutation;
FT dbSNP:rs730882028)"
FT /id="VAR_045533"
FT VARIANT 335
FT /note="R -> G (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045534"
FT VARIANT 335
FT /note="R -> H (in a sporadic cancer; somatic mutation;
FT dbSNP:rs771939956)"
FT /id="VAR_045535"
FT VARIANT 335
FT /note="R -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045536"
FT VARIANT 337
FT /note="R -> C (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs587782529)"
FT /evidence="ECO:0000269|PubMed:9452042"
FT /id="VAR_006041"
FT VARIANT 337
FT /note="R -> H (in LFS; germline mutation and in sporadic
FT cancers; somatic mutation; dbSNP:rs121912664)"
FT /evidence="ECO:0000269|PubMed:11481490"
FT /id="VAR_035016"
FT VARIANT 337
FT /note="R -> L (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912664)"
FT /id="VAR_045537"
FT VARIANT 337
FT /note="R -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs121912664)"
FT /id="VAR_045538"
FT VARIANT 338
FT /note="F -> I (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045539"
FT VARIANT 338
FT /note="F -> L (in a sporadic cancer; somatic mutation;
FT dbSNP:rs150293825)"
FT /id="VAR_045540"
FT VARIANT 339
FT /note="E -> K (in a sporadic cancer; somatic mutation;
FT dbSNP:rs17882252)"
FT /evidence="ECO:0000269|Ref.12"
FT /id="VAR_022316"
FT VARIANT 339
FT /note="E -> Q (in a sporadic cancer; somatic mutation;
FT dbSNP:rs17882252)"
FT /id="VAR_045541"
FT VARIANT 341
FT /note="F -> C (in sporadic cancers; somatic mutation)"
FT /id="VAR_045542"
FT VARIANT 342
FT /note="R -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045543"
FT VARIANT 342
FT /note="R -> P (in sporadic cancers; somatic mutation;
FT dbSNP:rs375338359)"
FT /id="VAR_045544"
FT VARIANT 342
FT /note="R -> Q (in sporadic cancers; somatic mutation;
FT dbSNP:rs375338359)"
FT /id="VAR_047213"
FT VARIANT 343
FT /note="E -> G (in sporadic cancers; somatic mutation)"
FT /id="VAR_045545"
FT VARIANT 344
FT /note="L -> P (in LFS; germline mutation and in a sporadic
FT cancer; somatic mutation; dbSNP:rs121912662)"
FT /id="VAR_045546"
FT VARIANT 344
FT /note="L -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045547"
FT VARIANT 346
FT /note="E -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045548"
FT VARIANT 347
FT /note="A -> G (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045549"
FT VARIANT 347
FT /note="A -> T (in sporadic cancers; somatic mutation)"
FT /id="VAR_045550"
FT VARIANT 348
FT /note="L -> F (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045551"
FT VARIANT 348
FT /note="L -> S (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045552"
FT VARIANT 349
FT /note="E -> D (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045553"
FT VARIANT 352
FT /note="D -> H (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045554"
FT VARIANT 353
FT /note="A -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045555"
FT VARIANT 354
FT /note="Q -> E (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045556"
FT VARIANT 354
FT /note="Q -> K (in a sporadic cancer; somatic mutation;
FT dbSNP:rs755394212)"
FT /id="VAR_045557"
FT VARIANT 354
FT /note="Q -> R (in sporadic cancers; somatic mutation;
FT dbSNP:rs752142489)"
FT /id="VAR_047214"
FT VARIANT 356
FT /note="G -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045558"
FT VARIANT 356
FT /note="G -> W (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045559"
FT VARIANT 358
FT /note="E -> D (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045560"
FT VARIANT 358
FT /note="E -> K (in a sporadic cancer; somatic mutation;
FT dbSNP:rs587782237)"
FT /id="VAR_045561"
FT VARIANT 360
FT /note="G -> A (in dbSNP:rs35993958)"
FT /id="VAR_045562"
FT VARIANT 360
FT /note="G -> V (in a sporadic cancer; somatic mutation;
FT dbSNP:rs35993958)"
FT /id="VAR_045563"
FT VARIANT 363
FT /note="R -> K (in a sporadic cancer; somatic mutation;
FT dbSNP:rs876660285)"
FT /id="VAR_045564"
FT VARIANT 364
FT /note="A -> P (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045565"
FT VARIANT 364
FT /note="A -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045566"
FT VARIANT 364
FT /note="A -> V (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045567"
FT VARIANT 365
FT /note="H -> R (in a sporadic cancer; somatic mutation)"
FT /id="VAR_047215"
FT VARIANT 365
FT /note="H -> Y (in a familial cancer not matching LFS;
FT germline mutation and in a sporadic cancer; somatic
FT mutation; dbSNP:rs267605075)"
FT /id="VAR_045568"
FT VARIANT 366
FT /note="S -> A (in a familial cancer not matching LFS;
FT germline mutation and in sporadic cancers; somatic
FT mutation; dbSNP:rs17881470)"
FT /evidence="ECO:0000269|Ref.12"
FT /id="VAR_022317"
FT VARIANT 370
FT /note="K -> Q (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045569"
FT VARIANT 376
FT /note="S -> A (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045570"
FT VARIANT 376
FT /note="S -> T (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045571"
FT VARIANT 379
FT /note="R -> H (in sporadic cancers; somatic mutation;
FT dbSNP:rs863224682)"
FT /id="VAR_045572"
FT VARIANT 385
FT /note="F -> L (in a sporadic cancer; somatic mutation;
FT dbSNP:rs1555524094)"
FT /id="VAR_045573"
FT VARIANT 389
FT /note="G -> W (in a sporadic cancer; somatic mutation;
FT dbSNP:rs587783064)"
FT /id="VAR_045574"
FT VARIANT 392
FT /note="S -> L (in a sporadic cancer; somatic mutation)"
FT /id="VAR_045575"
FT MUTAGEN 15
FT /note="S->A: Loss of interaction with PPP2R5C, PPP2CA AND
FT PPP2R1A."
FT /evidence="ECO:0000269|PubMed:17967874"
FT MUTAGEN 18
FT /note="T->A: No effect on interaction with MDM2 and
FT increase in protein levels after DNA damage."
FT /evidence="ECO:0000269|PubMed:10570149"
FT MUTAGEN 20
FT /note="S->A: Abolishes phosphorylation site. Abolishes
FT increase in protein levels after DNA damage."
FT /evidence="ECO:0000269|PubMed:10570149"
FT MUTAGEN 20
FT /note="S->D: Constitutively increased TP53 protein levels."
FT /evidence="ECO:0000269|PubMed:10570149"
FT MUTAGEN 22..23
FT /note="LW->QS: Loss of interaction with MDM2, leading to
FT constitutively increased TP53 protein levels."
FT /evidence="ECO:0000269|PubMed:10570149"
FT MUTAGEN 24
FT /note="K->R: Abolishes ubiquitination by MUL1."
FT /evidence="ECO:0000269|PubMed:21597459"
FT MUTAGEN 37
FT /note="S->D: Abolishes phosphorylation by MAPKAPK5."
FT /evidence="ECO:0000269|PubMed:17254968"
FT MUTAGEN 46
FT /note="S->A: Abolishes phosphorylation by DYRK2 and HIPK2
FT and acetylation of K-382 by CREBBP."
FT /evidence="ECO:0000269|PubMed:11740489,
FT ECO:0000269|PubMed:16219768, ECO:0000269|PubMed:17349958"
FT MUTAGEN 46
FT /note="Missing: Alters interaction with WWOX."
FT /evidence="ECO:0000269|PubMed:11740489,
FT ECO:0000269|PubMed:16219768, ECO:0000269|PubMed:17349958"
FT MUTAGEN 55
FT /note="T->A: Blocks phosphorylation by TAF1."
FT /evidence="ECO:0000269|PubMed:15053879"
FT MUTAGEN 183
FT /note="S->A: Abolishes strongly phosphorylation."
FT /evidence="ECO:0000269|PubMed:20959462"
FT MUTAGEN 183
FT /note="S->E: Inhibits slightly its transcriptional
FT activity."
FT /evidence="ECO:0000269|PubMed:20959462"
FT MUTAGEN 248
FT /note="R->S: Does not induce SNAI1 degradation."
FT /evidence="ECO:0000269|PubMed:20385133"
FT MUTAGEN 269
FT /note="S->A: Abolishes phosphorylation."
FT /evidence="ECO:0000269|PubMed:20959462"
FT MUTAGEN 269
FT /note="S->E: Inhibits strongly its transcriptional
FT activity."
FT /evidence="ECO:0000269|PubMed:20959462"
FT MUTAGEN 284
FT /note="T->E: Inhibits strongly its transcriptional
FT activity."
FT /evidence="ECO:0000269|PubMed:20959462"
FT MUTAGEN 291..292
FT /note="KK->RR: Abolishes polyubiquitination by MKRN1."
FT /evidence="ECO:0000269|PubMed:19536131"
FT MUTAGEN 319
FT /note="K->A: Loss of nuclear localization; when associated
FT with A-320 and A-321."
FT /evidence="ECO:0000269|PubMed:2156209"
FT MUTAGEN 320
FT /note="K->A: Loss of nuclear localization; when associated
FT with A-319 and A-321."
FT /evidence="ECO:0000269|PubMed:2156209"
FT MUTAGEN 321
FT /note="K->A: Loss of nuclear localization; when associated
FT with A-319 and A-320."
FT /evidence="ECO:0000269|PubMed:2156209"
FT MUTAGEN 333..337
FT /note="RGRER->KGKEK: Reduced methylation by PRMT5. Reduced
FT nuclear localization. Decreased binding to promoters of
FT target genes. Reduced transcriptional activity. Decrease in
FT cell cycle arrest."
FT /evidence="ECO:0000269|PubMed:19011621"
FT MUTAGEN 359
FT /note="P->D: Abolishes binding to USP7."
FT /evidence="ECO:0000269|PubMed:16402859"
FT MUTAGEN 361
FT /note="G->E: Abolishes binding to USP7."
FT /evidence="ECO:0000269|PubMed:16402859"
FT MUTAGEN 362
FT /note="S->A: Abolishes binding to USP7."
FT /evidence="ECO:0000269|PubMed:16402859"
FT MUTAGEN 370
FT /note="K->R: Induces a decrease in methylation by SMYD2."
FT /evidence="ECO:0000269|PubMed:17108971"
FT MUTAGEN 372
FT /note="K->R: Induces a decrease in protein stabilization."
FT /evidence="ECO:0000269|PubMed:15525938"
FT MUTAGEN 373
FT /note="K->R: Abolishes dimethylation by EHMT1 and EHMT2."
FT /evidence="ECO:0000269|PubMed:20118233"
FT MUTAGEN 381
FT /note="K->Q: Mimics acetylation, leading to increased
FT stability."
FT /evidence="ECO:0000269|PubMed:29474172"
FT MUTAGEN 381
FT /note="K->R: Decreased acetylation."
FT /evidence="ECO:0000269|PubMed:29474172"
FT MUTAGEN 382
FT /note="K->A: Abolishes acetylation by CREBBP."
FT /evidence="ECO:0000269|PubMed:10884347,
FT ECO:0000269|PubMed:11740489, ECO:0000269|PubMed:17707234,
FT ECO:0000269|PubMed:20870725"
FT MUTAGEN 382
FT /note="K->R: Abolishes monomethylation by KMT5A."
FT /evidence="ECO:0000269|PubMed:10884347,
FT ECO:0000269|PubMed:11740489, ECO:0000269|PubMed:17707234,
FT ECO:0000269|PubMed:20870725"
FT MUTAGEN 383
FT /note="L->A: Abolishes S-315 phosphorylation by CDK2/cyclin
FT A."
FT /evidence="ECO:0000269|PubMed:10884347"
FT MUTAGEN 385
FT /note="F->A: Reduced SUMO1 conjugation."
FT /evidence="ECO:0000269|PubMed:10884347,
FT ECO:0000269|PubMed:11124955"
FT MUTAGEN 386
FT /note="K->A: Abolishes SUMO1 conjugation, in vitro and in
FT vivo."
FT /evidence="ECO:0000269|PubMed:11124955, ECO:0000269|Ref.37"
FT MUTAGEN 387
FT /note="T->A: No effect SUMO1 conjugation."
FT /evidence="ECO:0000269|PubMed:11124955"
FT MUTAGEN 388
FT /note="E->A: Abolishes SUMO1 conjugation."
FT /evidence="ECO:0000269|PubMed:11124955"
FT HELIX 3..6
FT /evidence="ECO:0007829|PDB:5HOU"
FT TURN 8..10
FT /evidence="ECO:0007829|PDB:5HOU"
FT HELIX 19..21
FT /evidence="ECO:0007829|PDB:6T58"
FT HELIX 22..27
FT /evidence="ECO:0007829|PDB:6V4F"
FT STRAND 29..31
FT /evidence="ECO:0007829|PDB:2LY4"
FT STRAND 33..35
FT /evidence="ECO:0007829|PDB:2L14"
FT HELIX 36..38
FT /evidence="ECO:0007829|PDB:2B3G"
FT HELIX 41..44
FT /evidence="ECO:0007829|PDB:2B3G"
FT HELIX 47..55
FT /evidence="ECO:0007829|PDB:2B3G"
FT STRAND 95..97
FT /evidence="ECO:0007829|PDB:7B49"
FT TURN 105..108
FT /evidence="ECO:0007829|PDB:3D06"
FT STRAND 110..112
FT /evidence="ECO:0007829|PDB:3D06"
FT STRAND 118..120
FT /evidence="ECO:0007829|PDB:3Q05"
FT TURN 121..123
FT /evidence="ECO:0007829|PDB:3Q05"
FT STRAND 124..127
FT /evidence="ECO:0007829|PDB:3D06"
FT TURN 128..131
FT /evidence="ECO:0007829|PDB:3D06"
FT STRAND 132..135
FT /evidence="ECO:0007829|PDB:3D06"
FT STRAND 141..146
FT /evidence="ECO:0007829|PDB:3D06"
FT STRAND 148..150
FT /evidence="ECO:0007829|PDB:5UN8"
FT STRAND 156..165
FT /evidence="ECO:0007829|PDB:3D06"
FT HELIX 166..168
FT /evidence="ECO:0007829|PDB:3D06"
FT HELIX 177..180
FT /evidence="ECO:0007829|PDB:3D06"
FT STRAND 181..183
FT /evidence="ECO:0007829|PDB:4KVP"
FT STRAND 187..189
FT /evidence="ECO:0007829|PDB:6GGC"
FT STRAND 194..199
FT /evidence="ECO:0007829|PDB:3D06"
FT STRAND 204..207
FT /evidence="ECO:0007829|PDB:3D06"
FT TURN 209..211
FT /evidence="ECO:0007829|PDB:3D06"
FT STRAND 214..219
FT /evidence="ECO:0007829|PDB:3D06"
FT TURN 225..227
FT /evidence="ECO:0007829|PDB:2FEJ"
FT STRAND 228..236
FT /evidence="ECO:0007829|PDB:3D06"
FT HELIX 240..242
FT /evidence="ECO:0007829|PDB:3D07"
FT TURN 243..248
FT /evidence="ECO:0007829|PDB:3D06"
FT STRAND 251..258
FT /evidence="ECO:0007829|PDB:3D06"
FT STRAND 260..262
FT /evidence="ECO:0007829|PDB:2ADY"
FT STRAND 264..274
FT /evidence="ECO:0007829|PDB:3D06"
FT HELIX 278..287
FT /evidence="ECO:0007829|PDB:3D06"
FT HELIX 288..290
FT /evidence="ECO:0007829|PDB:4HJE"
FT HELIX 322..324
FT /evidence="ECO:0007829|PDB:3Q01"
FT STRAND 327..334
FT /evidence="ECO:0007829|PDB:3Q01"
FT HELIX 335..354
FT /evidence="ECO:0007829|PDB:1AIE"
FT HELIX 375..380
FT /evidence="ECO:0007829|PDB:1YC5"
SQ SEQUENCE 393 AA; 43653 MW; AD5C149FD8106131 CRC64;
MEEPQSDPSV EPPLSQETFS DLWKLLPENN VLSPLPSQAM DDLMLSPDDI EQWFTEDPGP
DEAPRMPEAA PPVAPAPAAP TPAAPAPAPS WPLSSSVPSQ KTYQGSYGFR LGFLHSGTAK
SVTCTYSPAL NKMFCQLAKT CPVQLWVDST PPPGTRVRAM AIYKQSQHMT EVVRRCPHHE
RCSDSDGLAP PQHLIRVEGN LRVEYLDDRN TFRHSVVVPY EPPEVGSDCT TIHYNYMCNS
SCMGGMNRRP ILTIITLEDS SGNLLGRNSF EVRVCACPGR DRRTEEENLR KKGEPHHELP
PGSTKRALPN NTSSSPQPKK KPLDGEYFTL QIRGRERFEM FRELNEALEL KDAQAGKEPG
GSRAHSSHLK SKKGQSTSRH KKLMFKTEGP DSD
