Entrez Gene

Basic Information
Gene ID	7486
Name	WRN
Synonymous	Werner syndrome, RecQ helicase-like;WRN;Werner syndrome, RecQ helicase-like
Definition	DNA helicase, RecQ-like type 3\|Werner syndrome ATP-dependent helicase\|exonuclease WRN\|recQ protein-like 2
Position	8p12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.3495G>T; p.Q1165H; 8:31147399-31147399	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1744C>T; p.Q582*; 8:31090857-31090857	skin	malignant_melanoma	Substitution - Nonsense
c.156C>T; p.S52S; 8:31059212-31059212	skin	malignant_melanoma	Substitution - coding silent
c.853C>G; p.L285V; 8:31080880-31080880	large_intestine; colon	NS	Substitution - Missense
c.92G>T; p.R31I; 8:31058539-31058539	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2847_2858del12; p.D951_D954delDSED; 8:31132386-31132397	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.2567G>A; p.G856D; 8:31120361-31120361	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3972C>G; p.P1324P; 8:31157520-31157520	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1517_1519delAAG; p.E510delE; 8:31087861-31087863	breast	carcinoma	Deletion - In frame
c.1517_1519delAAG; p.E510delE; 8:31087861-31087863	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.460A>G; p.K154E; 8:31065019-31065019	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1517_1519delAAG; p.E510delE; 8:31087861-31087863	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Deletion - In frame
c.3580A>T; p.T1194S; 8:31150348-31150348	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1182G>A; p.S394S; 8:31081209-31081209	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1182G>A; p.S394S; 8:31081209-31081209	pancreas	carcinoma	Substitution - coding silent
c.3745A>T; p.K1249*; 8:31154681-31154681	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1145A>C; p.K382T; 8:31081172-31081172	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1956G>T; p.L652L; 8:31096825-31096825	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.264A>T; p.L88F; 8:31064343-31064343	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2893A>G; p.K965E; 8:31132432-31132432	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.984A>T; p.V328V; 8:31081011-31081011	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2260C>G; p.L754V; 8:31111786-31111786	breast	carcinoma	Substitution - Missense
c.1717A>G; p.T573A; 8:31090529-31090529	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.4084G>A; p.G1362R; 8:31167123-31167123	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1221G>A; p.Q407Q; 8:31081248-31081248	central_nervous_system; brain	glioma	Substitution - coding silent
c.4084G>A; p.G1362R; 8:31167123-31167123	urinary_tract; bladder	carcinoma	Substitution - Missense
c.3832G>C; p.E1278Q; 8:31157380-31157380	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1782T>C; p.V594V; 8:31090895-31090895	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.4196C>T; p.S1399L; 8:31172999-31172999	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.2517C>T; p.Y839Y; 8:31120311-31120311	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2517C>T; p.Y839Y; 8:31120311-31120311	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.275G>T; p.G92V; 8:31064354-31064354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2440G>A; p.E814K; 8:31116520-31116520	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.808C>T; p.H270Y; 8:31076256-31076256	oesophagus	carcinoma	Substitution - Missense
c.2440G>A; p.E814K; 8:31116520-31116520	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2242C>T; p.Q748*; 8:31111768-31111768	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.154T>A; p.S52T; 8:31059210-31059210	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; polycythaemia_vera	Substitution - Missense
c.301C>G; p.Q101E; 8:31064380-31064380	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3284C>T; p.P1095L; 8:31142676-31142676	skin	malignant_melanoma	Substitution - Missense
c.1764A>G; p.V588V; 8:31090877-31090877	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1161G>A; p.M387I; 8:31081188-31081188	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1378G>A; p.D460N; 8:31085193-31085193	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2131C>T; p.R711W; 8:31111657-31111657	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.3930A>G; p.P1310P; 8:31157478-31157478	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.968C>T; p.S323L; 8:31080995-31080995	skin	malignant_melanoma	Substitution - Missense
c.96G>T; p.K32N; 8:31058543-31058543	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4133C>T; p.S1378F; 8:31167172-31167172	skin	malignant_melanoma	Substitution - Missense
c.3939G>C; p.Q1313H; 8:31157487-31157487	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1898+1G>A; p.?; 8:31091899-31091899	stomach	carcinoma; adenocarcinoma	Unknown
c.618T>C; p.T206T; 8:31067146-31067146	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.618T>C; p.T206T; 8:31067146-31067146	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.4068A>G; p.K1356K; 8:31167107-31167107	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.3497A>T; p.K1166I; 8:31147401-31147401	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2620A>C; p.N874H; 8:31120414-31120414	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.38G>A; p.R13Q; 8:31058485-31058485	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3237G>A; p.S1079S; 8:31142629-31142629	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.3120T>C; p.I1040I; 8:31141582-31141582	skin	malignant_melanoma	Substitution - coding silent
c.655-4A>G; p.?; 8:31068254-31068254	oesophagus; lower_third	carcinoma; adenocarcinoma	Unknown
c.1009G>T; p.E337*; 8:31081036-31081036	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2236A>G; p.I746V; 8:31111762-31111762	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.98C>A; p.A33E; 8:31059154-31059154	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.847A>T; p.I283F; 8:31080874-31080874	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2868C>T; p.S956S; 8:31132407-31132407	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2591G>A; p.C864Y; 8:31120385-31120385	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3222G>T; p.L1074F; 8:31141764-31141764	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.4099T>C; p.C1367R; 8:31167138-31167138	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.486A>T; p.T162T; 8:31065045-31065045	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2597T>G; p.V866G; 8:31120391-31120391	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2807G>T; p.C936F; 8:31124982-31124982	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.839G>A; p.R280K; 8:31076287-31076287	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1791C>T; p.P597P; 8:31090904-31090904	skin	malignant_melanoma	Substitution - coding silent
c.3763C>G; p.L1255V; 8:31154699-31154699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3763C>G; p.L1255V; 8:31154699-31154699	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2129T>C; p.I710T; 8:31111655-31111655	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2265C>G; p.V755V; 8:31111791-31111791	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.8delA; p.K5fs*15; 8:31058455-31058455	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.617C>T; p.T206I; 8:31067145-31067145	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2195G>A; p.R732Q; 8:31111721-31111721	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2060T>A; p.L687*; 8:31100927-31100927	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.3934G>T; p.V1312F; 8:31157482-31157482	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1577-3C>T; p.?; 8:31088887-31088887	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2507T>G; p.V836G; 8:31120301-31120301	skin	malignant_melanoma	Substitution - Missense
c.4143C>T; p.I1381I; 8:31167182-31167182	skin	malignant_melanoma	Substitution - coding silent
c.3437C>T; p.S1146L; 8:31147106-31147106	skin	malignant_melanoma	Substitution - Missense
c.3124G>C; p.A1042P; 8:31141586-31141586	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3382A>G; p.S1128G; 8:31143622-31143622	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.184T>C; p.C62R; 8:31059240-31059240	pancreas	carcinoma	Substitution - Missense
c.184T>C; p.C62R; 8:31059240-31059240	pancreas	carcinoma	Substitution - Missense
c.2603G>T; p.W868L; 8:31120397-31120397	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3207G>T; p.L1069F; 8:31141749-31141749	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2367A>T; p.L789L; 8:31116447-31116447	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2371T>G; p.C791G; 8:31116451-31116451	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3988A>T; p.S1330C; 8:31167027-31167027	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.172G>A; p.D58N; 8:31059228-31059228	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3599G>T; p.R1200M; 8:31150367-31150367	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2520T>C; p.G840G; 8:31120314-31120314	breast	carcinoma	Substitution - coding silent
c.521C>T; p.T174I; 8:31067049-31067049	pancreas	carcinoma	Substitution - Missense
c.1805T>A; p.M602K; 8:31090918-31090918	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2950T>A; p.L984I; 8:31132489-31132489	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.3567A>C; p.K1189N; 8:31147471-31147471	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.581C>T; p.S194F; 8:31067109-31067109	skin	malignant_melanoma	Substitution - Missense
c.2813A>G; p.N938S; 8:31124988-31124988	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3226C>T; p.L1076L; 8:31141768-31141768	skin	malignant_melanoma	Substitution - coding silent
c.2995C>T; p.R999C; 8:31141457-31141457	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1335A>C; p.E445D; 8:31083764-31083764	breast	carcinoma	Substitution - Missense
c.3533T>C; p.L1178P; 8:31147437-31147437	thyroid	carcinoma	Substitution - Missense
c.1319G>A; p.S440N; 8:31083748-31083748	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3016A>C; p.T1006P; 8:31141478-31141478	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1452T>A; p.S484R; 8:31087796-31087796	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2031G>A; p.G677G; 8:31100898-31100898	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.3747A>G; p.K1249K; 8:31154683-31154683	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1133T>C; p.V378A; 8:31081160-31081160	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1105C>T; p.R369*; 8:31081132-31081132	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3187C>T; p.L1063F; 8:31141729-31141729	skin	malignant_melanoma	Substitution - Missense
c.1105C>T; p.R369*; 8:31081132-31081132	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Nonsense
c.2276C>T; p.S759F; 8:31116356-31116356	skin	malignant_melanoma	Substitution - Missense
c.2520T>G; p.G840G; 8:31120314-31120314	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2234A>G; p.N745S; 8:31111760-31111760	skin	malignant_melanoma	Substitution - Missense
c.2630+3delA; p.?; 8:31120427-31120427	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.3516T>C; p.D1172D; 8:31147420-31147420	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.2616C>G; p.D872E; 8:31120410-31120410	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1687G>T; p.E563*; 8:31090499-31090499	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2978G>A; p.R993H; 8:31141440-31141440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2845A>G; p.M949V; 8:31132384-31132384	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2474G>C; p.G825A; 8:31120268-31120268	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2525C>T; p.P842L; 8:31120319-31120319	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.964G>T; p.D322Y; 8:31080991-31080991	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1893T>G; p.I631M; 8:31091893-31091893	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.3882G>A; p.A1294A; 8:31157430-31157430	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2180G>T; p.C727F; 8:31111706-31111706	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2098G>A; p.V700I; 8:31111624-31111624	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2225A>C; p.K742T; 8:31111751-31111751	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.74G>C; p.R25T; 8:31058521-31058521	pancreas	carcinoma	Substitution - Missense
c.2736C>T; p.I912I; 8:31124911-31124911	breast	carcinoma	Substitution - coding silent
c.74G>C; p.R25T; 8:31058521-31058521	pancreas	carcinoma	Substitution - Missense
c.1377C>G; p.N459K; 8:31085192-31085192	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1921G>C; p.V641L; 8:31096790-31096790	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2940G>C; p.G980G; 8:31132479-31132479	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2940G>C; p.G980G; 8:31132479-31132479	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1531G>A; p.D511N; 8:31087875-31087875	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1439A>T; p.E480V; 8:31087783-31087783	large_intestine; colon	carcinoma	Substitution - Missense
c.3609T>G; p.G1203G; 8:31150377-31150377	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2666G>A; p.R889Q; 8:31124557-31124557	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1439A>T; p.E480V; 8:31087783-31087783	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3881C>T; p.A1294V; 8:31157429-31157429	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.252G>A; p.E84E; 8:31064331-31064331	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.252G>A; p.E84E; 8:31064331-31064331	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.223G>A; p.D75N; 8:31064302-31064302	skin; trunk	malignant_melanoma	Substitution - Missense
c.33G>A; p.Q11Q; 8:31058480-31058480	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2492C>T; p.A831V; 8:31120286-31120286	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2492C>T; p.A831V; 8:31120286-31120286	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.3205T>C; p.L1069L; 8:31141747-31141747	pancreas	carcinoma; ductal_carcinoma	Substitution - coding silent
c.816C>T; p.F272F; 8:31076264-31076264	breast	carcinoma	Substitution - coding silent
c.3205T>C; p.L1069L; 8:31141747-31141747	pancreas	carcinoma	Substitution - coding silent
c.4121G>T; p.C1374F; 8:31167160-31167160	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3123C>T; p.C1041C; 8:31141585-31141585	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.4083C>T; p.S1361S; 8:31167122-31167122	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.3123C>T; p.C1041C; 8:31141585-31141585	breast	carcinoma	Substitution - coding silent
c.1496G>T; p.R499I; 8:31087840-31087840	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1496G>T; p.R499I; 8:31087840-31087840	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2844C>T; p.S948S; 8:31132383-31132383	skin; arm	malignant_melanoma	Substitution - coding silent
c.1561G>T; p.E521*; 8:31087905-31087905	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2361G>T; p.L787L; 8:31116441-31116441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2239C>A; p.L747I; 8:31111765-31111765	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3101A>T; p.Y1034F; 8:31141563-31141563	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.660T>G; p.G220G; 8:31068263-31068263	liver	carcinoma	Substitution - coding silent
c.2515T>C; p.Y839H; 8:31120309-31120309	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.4253G>T; p.S1418I; 8:31173056-31173056	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.3875C>T; p.S1292F; 8:31157423-31157423	skin	malignant_melanoma	Substitution - Missense
c.774T>C; p.S258S; 8:31076222-31076222	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2608C>T; p.P870S; 8:31120402-31120402	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.106C>T; p.R36W; 8:31059162-31059162	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3216G>T; p.K1072N; 8:31141758-31141758	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.54G>A; p.W18*; 8:31058501-31058501	liver	carcinoma	Substitution - Nonsense
c.54G>A; p.W18*; 8:31058501-31058501	liver	carcinoma	Substitution - Nonsense
c.1745A>G; p.Q582R; 8:31090858-31090858	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.3972C>T; p.P1324P; 8:31157520-31157520	skin	malignant_melanoma	Substitution - coding silent
c.3688A>T; p.T1230S; 8:31154624-31154624	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1338G>A; p.M446I; 8:31083767-31083767	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.3349A>C; p.K1117Q; 8:31143589-31143589	thyroid	other; neoplasm	Substitution - Missense
c.841G>T; p.V281F; 8:31080868-31080868	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.636T>C; p.Y212Y; 8:31067164-31067164	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2457A>C; p.I819I; 8:31120251-31120251	liver	carcinoma	Substitution - coding silent
c.2457A>C; p.I819I; 8:31120251-31120251	liver	carcinoma	Substitution - coding silent
c.1279C>T; p.P427S; 8:31083708-31083708	skin	malignant_melanoma	Substitution - Missense
c.2834A>G; p.H945R; 8:31132373-31132373	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2727G>T; p.R909S; 8:31124618-31124618	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2923G>A; p.E975K; 8:31132462-31132462	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3961C>T; p.R1321*; 8:31157509-31157509	skin	malignant_melanoma	Substitution - Nonsense
c.4191+-4delCTGAGGTATTAATTATATATA; p.?; 8:31167226-31167246	kidney	carcinoma	Unknown
c.2596G>A; p.V866I; 8:31120390-31120390	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1516_1517insAAG; p.E510_D511insE; 8:31087860-31087861	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - In frame
c.330C>G; p.Y110*; 8:31064409-31064409	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2122T>G; p.S708A; 8:31111648-31111648	breast	carcinoma	Substitution - Missense
c.3384-2A>T; p.?; 8:31147051-31147051	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.3350A>T; p.K1117M; 8:31143590-31143590	thyroid	other; neoplasm	Substitution - Missense
c.2919A>T; p.L973F; 8:31132458-31132458	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2146C>T; p.R716C; 8:31111672-31111672	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.3377A>G; p.K1126R; 8:31143617-31143617	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.4018C>T; p.P1340S; 8:31167057-31167057	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1785C>T; p.I595I; 8:31090898-31090898	skin	malignant_melanoma	Substitution - coding silent
c.142G>T; p.E48*; 8:31059198-31059198	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.142G>T; p.E48*; 8:31059198-31059198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2468C>G; p.A823G; 8:31120262-31120262	lung	carcinoid-endocrine_tumour; typical	Substitution - Missense
c.2426G>T; p.R809M; 8:31116506-31116506	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2790G>T; p.M930I; 8:31124965-31124965	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1769A>G; p.K590R; 8:31090882-31090882	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1530A>T; p.E510D; 8:31087874-31087874	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1530A>T; p.E510D; 8:31087874-31087874	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1024G>A; p.V342I; 8:31081051-31081051	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1066A>G; p.K356E; 8:31081093-31081093	skin	malignant_melanoma	Substitution - Missense
c.730G>T; p.E244*; 8:31076178-31076178	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.3975C>T; p.V1325V; 8:31157523-31157523	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2030G>C; p.G677A; 8:31100897-31100897	skin	malignant_melanoma	Substitution - Missense
c.1988C>T; p.T663M; 8:31100855-31100855	breast	carcinoma	Substitution - Missense
c.3629C>T; p.A1210V; 8:31150397-31150397	skin	malignant_melanoma	Substitution - Missense
c.2124T>C; p.S708S; 8:31111650-31111650	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3138+6C>T; p.?; 8:31141606-31141606	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.3138+6C>T; p.?; 8:31141606-31141606	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.3132G>A; p.T1044T; 8:31141594-31141594	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.632T>C; p.L211P; 8:31067160-31067160	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1012G>A; p.V338I; 8:31081039-31081039	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1940C>T; p.S647L; 8:31096809-31096809	breast	carcinoma	Substitution - Missense
c.1898+3G>C; p.?; 8:31091901-31091901	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2410A>G; p.K804E; 8:31116490-31116490	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.1406A>G; p.E469G; 8:31085221-31085221	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2409G>C; p.R803S; 8:31116489-31116489	oesophagus	carcinoma	Substitution - Missense
c.3107A>G; p.K1036R; 8:31141569-31141569	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.4288C>G; p.L1430V; 8:31173091-31173091	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2854T>G; p.S952A; 8:31132393-31132393	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1616G>A; p.C539Y; 8:31088929-31088929	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1297G>A; p.D433N; 8:31083726-31083726	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2401A>G; p.S801G; 8:31116481-31116481	liver	carcinoma	Substitution - Missense
c.2387C>T; p.A796V; 8:31116467-31116467	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2401A>G; p.S801G; 8:31116481-31116481	liver	carcinoma	Substitution - Missense
c.104T>C; p.V35A; 8:31059160-31059160	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2387C>T; p.A796V; 8:31116467-31116467	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1087C>T; p.L363F; 8:31081114-31081114	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2651G>A; p.R884H; 8:31124542-31124542	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1431+1G>A; p.?; 8:31085247-31085247	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Unknown
c.2216T>C; p.V739A; 8:31111742-31111742	skin	malignant_melanoma	Substitution - Missense
c.1132G>T; p.V378L; 8:31081159-31081159	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2800A>C; p.K934Q; 8:31124975-31124975	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3041G>T; p.W1014L; 8:31141503-31141503	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.3586G>T; p.E1196*; 8:31150354-31150354	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2458G>C; p.A820P; 8:31120252-31120252	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2458G>C; p.A820P; 8:31120252-31120252	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.4003A>G; p.I1335V; 8:31167042-31167042	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.654+8C>G; p.?; 8:31067190-31067190	ovary	other; neoplasm	Unknown
c.254G>T; p.W85L; 8:31064333-31064333	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.631C>G; p.L211V; 8:31067159-31067159	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1376A>T; p.N459I; 8:31085191-31085191	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1612A>G; p.T538A; 8:31088925-31088925	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1013T>G; p.V338G; 8:31081040-31081040	skin	malignant_melanoma	Substitution - Missense
c.1989G>A; p.T663T; 8:31100856-31100856	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3376delA; p.S1128fs*34; 8:31143616-31143616	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3376delA; p.S1128fs*34; 8:31143616-31143616	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.3376delA; p.S1128fs*34; 8:31143616-31143616	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift

COSMIC somatic mutation [Top]