Entrez Gene

Basic Information
Gene ID	1495
Name	CTNNA1
Synonymous	catenin (cadherin-associated protein), alpha 1, 102kDa;CTNNA1;catenin (cadherin-associated protein), alpha 1, 102kDa
Definition	alpha E-catenin\|alpha-E-catenin\|alpha-catenin\|alphaE-catenin\|cadherin-associated protein,102kDa\|catenin alpha-1\|renal carcinoma antigen NY-REN-13
Position	5q31.2
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.2393C>T; p.A798V; 5:138932672-138932672	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1475delA; p.K493fs*31; 5:138917827-138917827	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2393C>T; p.A798V; 5:138932672-138932672	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2368C>T; p.L790L; 5:138932647-138932647	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.128A>T; p.N43I; 5:138783199-138783199	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.455T>C; p.V152A; 5:138810191-138810191	bone	chondrosarcoma	Substitution - Missense
c.2671G>A; p.V891M; 5:138934039-138934039	liver	carcinoma	Substitution - Missense
c.2671G>A; p.V891M; 5:138934039-138934039	liver	carcinoma	Substitution - Missense
c.2671G>A; p.V891M; 5:138934039-138934039	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2073C>A; p.F691L; 5:138930535-138930535	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.330G>T; p.E110D; 5:138810066-138810066	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2301C>A; p.C767*; 5:138932580-138932580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.796G>A; p.D266N; 5:138824737-138824737	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.33C>T; p.F11F; 5:138781957-138781957	breast	carcinoma	Substitution - coding silent
c.103C>T; p.Q35*; 5:138782027-138782027	ovary	carcinoma	Substitution - Nonsense
c.2301C>A; p.C767*; 5:138932580-138932580	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2301C>A; p.C767*; 5:138932580-138932580	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2063T>G; p.V688G; 5:138930525-138930525	breast	carcinoma	Substitution - Missense
c.2301C>A; p.C767*; 5:138932580-138932580	large_intestine; colon	carcinoma	Substitution - Nonsense
c.2301C>A; p.C767*; 5:138932580-138932580	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1148G>A; p.R383H; 5:138887494-138887494	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1800G>A; p.S600S; 5:138925308-138925308	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1507G>A; p.D503N; 5:138917859-138917859	skin	malignant_melanoma	Substitution - Missense
c.1673C>T; p.S558L; 5:138924636-138924636	breast	carcinoma	Substitution - Missense
c.2282G>A; p.R761H; 5:138930919-138930919	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1317C>T; p.S439S; 5:138904369-138904369	liver	carcinoma	Substitution - coding silent
c.1317C>T; p.S439S; 5:138904369-138904369	liver	carcinoma	Substitution - coding silent
c.1351C>T; p.R451*; 5:138904403-138904403	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1351C>T; p.R451*; 5:138904403-138904403	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1351C>T; p.R451*; 5:138904403-138904403	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1343A>C; p.K448T; 5:138904395-138904395	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1351C>T; p.R451*; 5:138904403-138904403	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1351C>T; p.R451*; 5:138904403-138904403	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.471G>T; p.V157V; 5:138812185-138812185	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1618C>T; p.R540C; 5:138924581-138924581	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.657G>A; p.P219P; 5:138824598-138824598	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.657G>A; p.P219P; 5:138824598-138824598	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2431G>T; p.G811W; 5:138932710-138932710	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.813G>T; p.Q271H; 5:138824754-138824754	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.1417G>A; p.A473T; 5:138917769-138917769	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1781C>T; p.A594V; 5:138925289-138925289	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>T; p.E415*; 5:138887589-138887589	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.361C>T; p.R121*; 5:138810097-138810097	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1378C>T; p.L460F; 5:138904430-138904430	NS	malignant_melanoma	Substitution - Missense
c.1378C>T; p.L460F; 5:138904430-138904430	NS	malignant_melanoma	Substitution - Missense
c.361C>T; p.R121*; 5:138810097-138810097	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1A>C; p.M1L; 5:138781925-138781925	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.819A>T; p.G273G; 5:138824760-138824760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2448G>A; p.M816I; 5:138933816-138933816	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2006delC; p.R670fs*52; 5:138929352-138929352	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.160C>T; p.R54C; 5:138783231-138783231	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.710A>G; p.Y237C; 5:138824651-138824651	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.160C>T; p.R54C; 5:138783231-138783231	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2563C>G; p.P855A; 5:138933931-138933931	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2177T>C; p.M726T; 5:138930639-138930639	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1389+1G>C; p.?; 5:138904442-138904442	skin	malignant_melanoma	Unknown
c.2177T>C; p.M726T; 5:138930639-138930639	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2177T>C; p.M726T; 5:138930639-138930639	stomach	adenocarcinoma	Substitution - Missense
c.2552C>T; p.S851F; 5:138933920-138933920	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2530C>T; p.Q844*; 5:138933898-138933898	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2323G>A; p.D775N; 5:138932602-138932602	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2281C>T; p.R761C; 5:138930918-138930918	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Missense
c.965C>T; p.S322L; 5:138827621-138827621	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1619G>A; p.R540H; 5:138924582-138924582	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2176A>G; p.M726V; 5:138930638-138930638	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1696G>A; p.G566R; 5:138924659-138924659	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1124C>T; p.T375I; 5:138886273-138886273	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2695G>A; p.E899K; 5:138934063-138934063	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2707A>G; p.M903V; 5:138934075-138934075	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2366A>G; p.Q789R; 5:138932645-138932645	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2010+2T>C; p.?; 5:138929358-138929358	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.2092C>A; p.L698M; 5:138930554-138930554	skin	malignant_melanoma	Substitution - Missense
c.2345G>A; p.R782H; 5:138932624-138932624	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2345G>A; p.R782H; 5:138932624-138932624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2350G>A; p.A784T; 5:138932629-138932629	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2350G>A; p.A784T; 5:138932629-138932629	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2413G>A; p.G805R; 5:138932692-138932692	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1857T>C; p.Y619Y; 5:138925365-138925365	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2689C>A; p.L897I; 5:138934057-138934057	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.577delA; p.R194fs*5; 5:138812291-138812291	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.177T>C; p.H59H; 5:138783248-138783248	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.645G>T; p.Q215H; 5:138824586-138824586	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.105G>A; p.Q35Q; 5:138782029-138782029	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.866T>C; p.I289T; 5:138827522-138827522	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1356G>A; p.M452I; 5:138904408-138904408	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - Missense
c.1419delA; p.K474fs*50; 5:138917771-138917771	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2164A>C; p.I722L; 5:138930626-138930626	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.816T>A; p.G272G; 5:138824757-138824757	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.748C>T; p.Q250*; 5:138824689-138824689	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Substitution - Nonsense
c.2472C>G; p.N824K; 5:138933840-138933840	ovary	other; neoplasm	Substitution - Missense
c.2288T>C; p.I763T; 5:138930925-138930925	liver	carcinoma	Substitution - Missense
c.2288T>C; p.I763T; 5:138930925-138930925	liver	carcinoma	Substitution - Missense
c.665A>G; p.Y222C; 5:138824606-138824606	liver	carcinoma	Substitution - Missense
c.665A>G; p.Y222C; 5:138824606-138824606	liver	carcinoma	Substitution - Missense
c.385C>T; p.R129*; 5:138810121-138810121	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.385C>T; p.R129*; 5:138810121-138810121	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2326C>A; p.L776M; 5:138932605-138932605	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.385C>T; p.R129*; 5:138810121-138810121	breast	carcinoma	Substitution - Nonsense
c.2711A>G; p.D904G; 5:138934079-138934079	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2619G>T; p.E873D; 5:138933987-138933987	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1341A>G; p.V447V; 5:138904393-138904393	kidney	other; neoplasm	Substitution - coding silent
c.2436G>A; p.V812V; 5:138933804-138933804	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.923G>A; p.R308H; 5:138827579-138827579	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.191C>G; p.S64C; 5:138783262-138783262	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2678C>T; p.P893L; 5:138934046-138934046	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2397G>T; p.E799D; 5:138932676-138932676	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2059C>G; p.Q687E; 5:138930521-138930521	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.146A>G; p.N49S; 5:138783217-138783217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1136G>A; p.R379H; 5:138886285-138886285	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1136G>A; p.R379H; 5:138886285-138886285	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.520G>T; p.G174*; 5:138812234-138812234	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.972C>T; p.C324C; 5:138827628-138827628	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.137G>T; p.G46V; 5:138783208-138783208	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2651G>A; p.R884Q; 5:138934019-138934019	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2466C>A; p.A822A; 5:138933834-138933834	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.858+1G>A; p.?; 5:138824800-138824800	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.540delA; p.K181fs*7; 5:138812254-138812254	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.104A>G; p.Q35R; 5:138782028-138782028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.829G>T; p.E277*; 5:138824770-138824770	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2610G>A; p.V870V; 5:138933978-138933978	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.49A>C; p.S17R; 5:138781973-138781973	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2257G>T; p.G753*; 5:138930894-138930894	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1782C>T; p.A594A; 5:138925290-138925290	skin	malignant_melanoma	Substitution - coding silent
c.1322C>G; p.S441*; 5:138904374-138904374	breast	carcinoma	Substitution - Nonsense
c.1782C>T; p.A594A; 5:138925290-138925290	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.677A>G; p.Q226R; 5:138824618-138824618	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1506C>T; p.V502V; 5:138917858-138917858	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1961C>T; p.T654M; 5:138929307-138929307	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.297A>G; p.K99K; 5:138783368-138783368	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.293G>A; p.R98Q; 5:138783364-138783364	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2173G>C; p.E725Q; 5:138930635-138930635	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.292C>T; p.R98*; 5:138783363-138783363	breast	carcinoma	Substitution - Nonsense
c.292C>T; p.R98*; 5:138783363-138783363	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.292C>T; p.R98*; 5:138783363-138783363	pancreas	carcinoma	Substitution - Nonsense
c.2670C>T; p.H890H; 5:138934038-138934038	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2410G>A; p.G804S; 5:138932689-138932689	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Substitution - Missense
c.1069C>T; p.R357C; 5:138886218-138886218	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.974C>T; p.T325M; 5:138827630-138827630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2388_2389insA; p.A798fs*80; 5:138932667-138932668	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1069C>T; p.R357C; 5:138886218-138886218	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1321T>C; p.S441P; 5:138904373-138904373	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2393C>A; p.A798D; 5:138932672-138932672	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2659C>G; p.Q887E; 5:138934027-138934027	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.851_851delA; p.N284fs*11; 5:138824792-138824792	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2583G>A; p.M861I; 5:138933951-138933951	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2596delA; p.K867fs*4; 5:138933964-138933964	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.706G>A; p.A236T; 5:138824647-138824647	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1880A>G; p.K627R; 5:138925388-138925388	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1143+8G>C; p.?; 5:138886300-138886300	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.2033A>G; p.Q678R; 5:138930495-138930495	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.345C>A; p.P115P; 5:138810081-138810081	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2344C>T; p.R782C; 5:138932623-138932623	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.2491_2494delCAGA; p.T832fs*1; 5:138933859-138933862	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1144-5A>G; p.?; 5:138887485-138887485	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelodysplastic_syndrome	Unknown
c.924T>C; p.R308R; 5:138827580-138827580	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.745C>T; p.Q249*; 5:138824686-138824686	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1055T>C; p.M352T; 5:138827711-138827711	large_intestine; colon	NS	Substitution - Missense
c.2528A>G; p.Y843C; 5:138933896-138933896	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2032C>T; p.Q678*; 5:138930494-138930494	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.2032C>T; p.Q678*; 5:138930494-138930494	breast	carcinoma	Substitution - Nonsense
c.2032C>T; p.Q678*; 5:138930494-138930494	breast	carcinoma; ductal_carcinoma	Substitution - Nonsense
c.2619G>C; p.E873D; 5:138933987-138933987	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2220G>A; p.S740S; 5:138930857-138930857	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.175C>T; p.H59Y; 5:138783246-138783246	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2220G>A; p.S740S; 5:138930857-138930857	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1637G>A; p.R546Q; 5:138924600-138924600	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1046C>T; p.S349L; 5:138827702-138827702	skin	malignant_melanoma	Substitution - Missense
c.994C>T; p.R332*; 5:138827650-138827650	prostate	carcinoma	Substitution - Nonsense
c.1227G>T; p.K409N; 5:138887573-138887573	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2309C>T; p.S770L; 5:138932588-138932588	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1302C>T; p.A434A; 5:138904354-138904354	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1294G>C; p.E432Q; 5:138887640-138887640	breast	carcinoma	Substitution - Missense
c.2309C>T; p.S770L; 5:138932588-138932588	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1900-1G>T; p.?; 5:138929245-138929245	breast	carcinoma	Unknown
c.1212G>C; p.L404F; 5:138887558-138887558	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2192G>A; p.R731Q; 5:138930654-138930654	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1633_1634insA; p.I545fs*20; 5:138924596-138924597	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Insertion - Frameshift
c.2192G>A; p.R731Q; 5:138930654-138930654	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2192G>A; p.R731Q; 5:138930654-138930654	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1652G>A; p.R551Q; 5:138924615-138924615	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.743_744insGCA; p.Q250_A251insQ; 5:138824684-138824685	endometrium	carcinoma; endometrioid_carcinoma	Insertion - In frame
c.1276C>G; p.H426D; 5:138887622-138887622	pancreas	carcinoma	Substitution - Missense
c.94C>T; p.L32F; 5:138782018-138782018	skin	malignant_melanoma	Substitution - Missense
c.120delA; p.N41fs*54; 5:138783191-138783191	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2375T>A; p.I792N; 5:138932654-138932654	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1876A>C; p.R626R; 5:138925384-138925384	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2438A>G; p.D813G; 5:138933806-138933806	pancreas	carcinoma	Substitution - Missense
c.2353C>A; p.L785I; 5:138932632-138932632	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.2438A>G; p.D813G; 5:138933806-138933806	pancreas	carcinoma	Substitution - Missense
c.2438A>G; p.D813G; 5:138933806-138933806	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.2600A>C; p.K867T; 5:138933968-138933968	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1749C>T; p.V583V; 5:138925257-138925257	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2191C>T; p.R731*; 5:138930653-138930653	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Nonsense
c.24C>T; p.N8N; 5:138781948-138781948	liver	carcinoma	Substitution - coding silent
c.727C>A; p.L243M; 5:138824668-138824668	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1742_1743delAC; p.T582fs*7; 5:138924705-138924706	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1624G>T; p.A542S; 5:138924587-138924587	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1624G>T; p.A542S; 5:138924587-138924587	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.2485G>T; p.V829L; 5:138933853-138933853	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1106delA; p.D369fs*3; 5:138886255-138886255	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift

COSMIC somatic mutation [Top]