Entrez Gene

Basic Information
Gene ID	2984
Name	GUCY2C
Synonymous	guanylate cyclase 2C;GUCY2C;guanylate cyclase 2C
Definition	GC-C\|STA receptor\|guanylyl cyclase C\|hSTAR\|heat stable enterotoxin receptor\|heat-stable enterotoxin receptor\|intestinal guanylate cyclase
Position	12p12
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.254C>T; p.S85L; 12:14688027-14688027	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.889C>T; p.L297L; 12:14676913-14676913	skin	malignant_melanoma	Substitution - coding silent
c.2921G>T; p.R974I; 12:14616682-14616682	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.170C>T; p.A57V; 12:14696279-14696279	breast	carcinoma	Substitution - Missense
c.955C>T; p.R319*; 12:14674754-14674754	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.955C>T; p.R319*; 12:14674754-14674754	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.955C>T; p.R319*; 12:14674754-14674754	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.2335G>A; p.V779I; 12:14625830-14625830	skin	malignant_melanoma	Substitution - Missense
c.955C>T; p.R319*; 12:14674754-14674754	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Nonsense
c.690G>A; p.K230K; 12:14681399-14681399	skin	malignant_melanoma	Substitution - coding silent
c.2196A>C; p.P732P; 12:14628699-14628699	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1006C>T; p.L336L; 12:14674703-14674703	skin	malignant_melanoma	Substitution - coding silent
c.2734C>T; p.L912F; 12:14621084-14621084	skin	malignant_melanoma	Substitution - Missense
c.1540A>T; p.I514F; 12:14652024-14652024	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2691C>T; p.A897A; 12:14621127-14621127	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1710+1G>T; p.?; 12:14651406-14651406	lung	carcinoma; adenocarcinoma	Unknown
c.1525G>A; p.D509N; 12:14652960-14652960	skin	malignant_melanoma	Substitution - Missense
c.1721A>T; p.N574I; 12:14645305-14645305	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1336C>T; p.L446F; 12:14661009-14661009	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1500C>G; p.I500M; 12:14652985-14652985	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1525G>A; p.D509N; 12:14652960-14652960	skin	malignant_melanoma	Substitution - Missense
c.1718T>C; p.L573S; 12:14645308-14645308	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.785G>A; p.R262Q; 12:14679702-14679702	skin	malignant_melanoma	Substitution - Missense
c.1232C>T; p.P411L; 12:14669772-14669772	skin; acral	malignant_melanoma	Substitution - Missense
c.785G>A; p.R262Q; 12:14679702-14679702	skin	malignant_melanoma	Substitution - Missense
c.1711-1G>A; p.?; 12:14645316-14645316	skin	malignant_melanoma	Unknown
c.1789A>G; p.I597V; 12:14645237-14645237	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2045C>T; p.T682I; 12:14641105-14641105	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1861G>A; p.V621I; 12:14643643-14643643	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1606-4C>A; p.?; 12:14651515-14651515	ovary	other; neoplasm	Unknown
c.1606-4C>A; p.?; 12:14651515-14651515	ovary	other; neoplasm	Unknown
c.1606-4C>A; p.?; 12:14651515-14651515	ovary	other; neoplasm	Unknown
c.2569G>C; p.D857H; 12:14622037-14622037	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2187G>A; p.E729E; 12:14628708-14628708	skin	malignant_melanoma	Substitution - coding silent
c.347G>C; p.G116A; 12:14686209-14686209	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2830G>A; p.G944R; 12:14619256-14619256	skin	malignant_melanoma	Substitution - Missense
c.2830G>A; p.G944R; 12:14619256-14619256	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2830G>A; p.G944R; 12:14619256-14619256	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1584delA; p.K528fs*4; 12:14651980-14651980	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2581G>A; p.D861N; 12:14622025-14622025	skin	malignant_melanoma	Substitution - Missense
c.2241G>A; p.K747K; 12:14628654-14628654	skin	malignant_melanoma	Substitution - coding silent
c.2370G>A; p.R790R; 12:14625795-14625795	skin	malignant_melanoma	Substitution - coding silent
c.1938G>A; p.W646*; 12:14641212-14641212	skin	malignant_melanoma	Substitution - Nonsense
c.342G>T; p.R114R; 12:14686214-14686214	skin	malignant_melanoma	Substitution - coding silent
c.1845G>C; p.L615L; 12:14643659-14643659	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2114G>A; p.R705H; 12:14639905-14639905	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.141T>C; p.F47F; 12:14696308-14696308	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.3091G>T; p.A1031S; 12:14613248-14613248	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2091T>C; p.N697N; 12:14639928-14639928	liver	carcinoma	Substitution - coding silent
c.2297G>A; p.R766Q; 12:14625868-14625868	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2091T>C; p.N697N; 12:14639928-14639928	liver	carcinoma	Substitution - coding silent
c.534C>T; p.N178N; 12:14683119-14683119	thyroid	carcinoma	Substitution - coding silent
c.655G>A; p.E219K; 12:14681434-14681434	skin	malignant_melanoma	Substitution - Missense
c.655G>A; p.E219K; 12:14681434-14681434	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2221delA; p.I741fs*24; 12:14628674-14628674	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2221delA; p.I741fs*24; 12:14628674-14628674	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1854C>T; p.T618T; 12:14643650-14643650	skin	malignant_melanoma	Substitution - coding silent
c.134C>A; p.S45*; 12:14696315-14696315	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.134C>A; p.S45*; 12:14696315-14696315	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Nonsense
c.2602-1G>T; p.?; 12:14621217-14621217	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1612C>T; p.Q538*; 12:14651505-14651505	skin	malignant_melanoma	Substitution - Nonsense
c.329C>T; p.S110L; 12:14687952-14687952	skin	malignant_melanoma	Substitution - Missense
c.2008G>A; p.A670T; 12:14641142-14641142	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2883delA; p.I962fs*3; 12:14616720-14616720	breast	carcinoma; ductal_carcinoma	Deletion - Frameshift
c.2008G>A; p.A670T; 12:14641142-14641142	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.763C>A; p.L255I; 12:14679724-14679724	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.172G>A; p.V58M; 12:14696277-14696277	skin	malignant_melanoma	Substitution - Missense
c.2703C>T; p.L901L; 12:14621115-14621115	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1833C>T; p.V611V; 12:14643671-14643671	skin	malignant_melanoma	Substitution - coding silent
c.1296G>A; p.L432L; 12:14661049-14661049	skin	malignant_melanoma	Substitution - coding silent
c.2317C>A; p.R773R; 12:14625848-14625848	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.770A>T; p.K257M; 12:14679717-14679717	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.601G>A; p.D201N; 12:14683052-14683052	breast	carcinoma	Substitution - Missense
c.1280G>A; p.R427Q; 12:14669724-14669724	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.569C>T; p.S190L; 12:14683084-14683084	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1770G>T; p.K590N; 12:14645256-14645256	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.792G>A; p.V264V; 12:14679695-14679695	bone; rib	chondrosarcoma	Substitution - coding silent
c.3199G>A; p.D1067N; 12:14613140-14613140	skin	malignant_melanoma	Substitution - Missense
c.1218T>G; p.P406P; 12:14669786-14669786	breast	carcinoma	Substitution - coding silent
c.2717C>T; p.T906I; 12:14621101-14621101	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1218T>C; p.P406P; 12:14669786-14669786	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2796T>C; p.V932V; 12:14619290-14619290	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2714G>A; p.G905E; 12:14621104-14621104	skin	malignant_melanoma	Substitution - Missense
c.3145C>T; p.R1049W; 12:14613194-14613194	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.485C>T; p.S162F; 12:14683168-14683168	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1634C>T; p.T545I; 12:14651483-14651483	skin; leg	malignant_melanoma; superficial_spreading	Substitution - Missense
c.1085G>A; p.G362E; 12:14672958-14672958	skin; trunk	malignant_melanoma	Substitution - Missense
c.3145C>T; p.R1049W; 12:14613194-14613194	liver	carcinoma	Substitution - Missense
c.2461G>A; p.E821K; 12:14622145-14622145	skin	malignant_melanoma	Substitution - Missense
c.1281G>A; p.R427R; 12:14669723-14669723	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1281G>A; p.R427R; 12:14669723-14669723	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.112A>C; p.S38R; 12:14696337-14696337	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2127C>T; p.F709F; 12:14639892-14639892	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2882G>T; p.R961I; 12:14616721-14616721	liver	carcinoma	Substitution - Missense
c.387C>G; p.F129L; 12:14686169-14686169	breast	carcinoma	Substitution - Missense
c.2882G>T; p.R961I; 12:14616721-14616721	liver	carcinoma	Substitution - Missense
c.1390C>T; p.R464C; 12:14656592-14656592	skin	malignant_melanoma	Substitution - Missense
c.1282G>A; p.G428S; 12:14669722-14669722	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2737C>T; p.P913S; 12:14621081-14621081	skin	malignant_melanoma	Substitution - Missense
c.3195C>A; p.T1065T; 12:14613144-14613144	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1390C>T; p.R464C; 12:14656592-14656592	central_nervous_system; brain	glioma	Substitution - Missense
c.301G>A; p.E101K; 12:14687980-14687980	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1575C>T; p.F525F; 12:14651989-14651989	skin	malignant_melanoma	Substitution - coding silent
c.1528A>C; p.K510Q; 12:14652957-14652957	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1645G>T; p.G549C; 12:14651472-14651472	breast	carcinoma	Substitution - Missense
c.1645G>T; p.G549C; 12:14651472-14651472	breast	carcinoma	Substitution - Missense
c.1927A>C; p.K643Q; 12:14643577-14643577	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.622G>A; p.A208T; 12:14681467-14681467	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1347C>T; p.V449V; 12:14660998-14660998	skin	malignant_melanoma	Substitution - coding silent
c.2257C>T; p.H753Y; 12:14625908-14625908	skin	malignant_melanoma	Substitution - Missense
c.853G>C; p.V285L; 12:14676949-14676949	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2613C>T; p.I871I; 12:14621205-14621205	breast	carcinoma	Substitution - coding silent
c.2613C>T; p.I871I; 12:14621205-14621205	skin	malignant_melanoma	Substitution - coding silent
c.2293A>C; p.I765L; 12:14625872-14625872	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.832G>A; p.D278N; 12:14676970-14676970	breast	carcinoma	Substitution - Missense
c.168T>C; p.D56D; 12:14696281-14696281	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2754G>A; p.W918*; 12:14621064-14621064	skin	malignant_melanoma	Substitution - Nonsense
c.2754G>A; p.W918*; 12:14621064-14621064	skin	malignant_melanoma	Substitution - Nonsense
c.2141A>G; p.E714G; 12:14639878-14639878	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3026A>G; p.N1009S; 12:14614888-14614888	skin	malignant_melanoma	Substitution - Missense
c.1664C>T; p.T555I; 12:14651453-14651453	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1092C>T; p.D364D; 12:14672951-14672951	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2396T>A; p.M799K; 12:14625769-14625769	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1624T>C; p.Y542H; 12:14651493-14651493	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2109C>T; p.P703P; 12:14639910-14639910	skin	malignant_melanoma	Substitution - coding silent
c.1242T>C; p.T414T; 12:14669762-14669762	pancreas	carcinoma	Substitution - coding silent
c.1242T>C; p.T414T; 12:14669762-14669762	pancreas	carcinoma	Substitution - coding silent
c.1852A>G; p.T618A; 12:14643652-14643652	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2069-8C>T; p.?; 12:14639958-14639958	skin; leg	malignant_melanoma; nodular	Unknown
c.2806A>T; p.K936*; 12:14619280-14619280	liver	carcinoma	Substitution - Nonsense
c.2080A>G; p.R694G; 12:14639939-14639939	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1348G>A; p.A450T; 12:14660997-14660997	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1928A>G; p.K643R; 12:14643576-14643576	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.3048G>A; p.V1016V; 12:14613291-14613291	skin	malignant_melanoma	Substitution - coding silent
c.1752C>T; p.F584F; 12:14645274-14645274	breast	carcinoma	Substitution - coding silent
c.2765G>A; p.G922E; 12:14621053-14621053	skin	malignant_melanoma	Substitution - Missense
c.98G>T; p.G33V; 12:14696351-14696351	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1979A>T; p.K660I; 12:14641171-14641171	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1860C>T; p.C620C; 12:14643644-14643644	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.880G>A; p.V294I; 12:14676922-14676922	central_nervous_system; brain	glioma; oligoastrocytoma	Substitution - Missense
c.2206C>T; p.P736S; 12:14628689-14628689	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2907A>G; p.I969M; 12:14616696-14616696	skin	malignant_melanoma	Substitution - Missense
c.181G>A; p.G61R; 12:14696268-14696268	skin	malignant_melanoma	Substitution - Missense
c.181G>A; p.G61R; 12:14696268-14696268	skin	malignant_melanoma	Substitution - Missense
c.183G>A; p.G61G; 12:14696266-14696266	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2056C>T; p.R686W; 12:14641094-14641094	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1433C>A; p.P478H; 12:14656549-14656549	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3080C>T; p.S1027L; 12:14613259-14613259	skin; leg	malignant_melanoma; nodular	Substitution - Missense
c.2317C>T; p.R773*; 12:14625848-14625848	skin	malignant_melanoma	Substitution - Nonsense
c.369A>G; p.S123S; 12:14686187-14686187	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.905G>A; p.G302E; 12:14676897-14676897	skin	malignant_melanoma	Substitution - Missense
c.648C>T; p.F216F; 12:14681441-14681441	skin	malignant_melanoma	Substitution - coding silent
c.2325G>A; p.L775L; 12:14625840-14625840	skin; upper_back	malignant_melanoma	Substitution - coding silent
c.2284G>A; p.D762N; 12:14625881-14625881	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.469T>A; p.L157I; 12:14683184-14683184	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.2397G>A; p.M799I; 12:14625768-14625768	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2203A>G; p.R735G; 12:14628692-14628692	skin	malignant_melanoma	Substitution - Missense
c.2145A>C; p.E715D; 12:14639874-14639874	skin	malignant_melanoma	Substitution - Missense
c.67A>G; p.S23G; 12:14696382-14696382	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1841G>A; p.R614H; 12:14643663-14643663	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.217+5G>C; p.?; 12:14696227-14696227	liver	carcinoma	Unknown
c.1704C>T; p.S568S; 12:14651413-14651413	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1675G>A; p.G559R; 12:14651442-14651442	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1798-1G>A; p.?; 12:14643707-14643707	lung	carcinoma; adenocarcinoma	Unknown
c.557C>T; p.S186F; 12:14683096-14683096	skin	malignant_melanoma	Substitution - Missense
c.221T>C; p.L74P; 12:14688060-14688060	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.983G>T; p.G328V; 12:14674726-14674726	skin	malignant_melanoma	Substitution - Missense
c.2890G>A; p.V964M; 12:14616713-14616713	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.342G>A; p.R114R; 12:14686214-14686214	skin	malignant_melanoma	Substitution - coding silent
c.2797G>A; p.V933M; 12:14619289-14619289	breast	carcinoma	Substitution - Missense
c.2272G>A; p.E758K; 12:14625893-14625893	skin	malignant_melanoma	Substitution - Missense
c.842T>A; p.F281Y; 12:14676960-14676960	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2055T>C; p.C685C; 12:14641095-14641095	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1312A>G; p.T438A; 12:14661033-14661033	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1447G>A; p.E483K; 12:14656535-14656535	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2792G>A; p.G931E; 12:14619294-14619294	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.220C>T; p.L74L; 12:14688061-14688061	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1200C>A; p.H400Q; 12:14669804-14669804	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1453A>C; p.N485H; 12:14656529-14656529	liver	carcinoma	Substitution - Missense
c.1534C>T; p.R512*; 12:14652030-14652030	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2225A>C; p.E742A; 12:14628670-14628670	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.1999G>A; p.G667R; 12:14641151-14641151	skin	malignant_melanoma	Substitution - Missense
c.2787T>G; p.A929A; 12:14619299-14619299	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1365-1G>C; p.?; 12:14656618-14656618	lung; right_upper_lobe	carcinoma; adenocarcinoma	Unknown
c.2026C>T; p.R676W; 12:14641124-14641124	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.785G>T; p.R262L; 12:14679702-14679702	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2270A>T; p.N757I; 12:14625895-14625895	ovary	other; neoplasm	Substitution - Missense
c.2270A>T; p.N757I; 12:14625895-14625895	ovary	other; neoplasm	Substitution - Missense
c.2270A>T; p.N757I; 12:14625895-14625895	ovary	other; neoplasm	Substitution - Missense
c.3092C>T; p.A1031V; 12:14613247-14613247	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2204G>T; p.R735I; 12:14628691-14628691	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1738C>T; p.P580S; 12:14645288-14645288	skin	malignant_melanoma	Substitution - Missense
c.1807T>A; p.Y603N; 12:14643697-14643697	breast	carcinoma	Substitution - Missense
c.1957C>T; p.R653C; 12:14641193-14641193	central_nervous_system; brain	glioma	Substitution - Missense
c.1651G>T; p.V551L; 12:14651466-14651466	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3086T>C; p.M1029T; 12:14613253-14613253	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3053A>G; p.N1018S; 12:14613286-14613286	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1160A>C; p.D387A; 12:14672883-14672883	liver	carcinoma	Substitution - Missense
c.1160A>C; p.D387A; 12:14672883-14672883	liver	carcinoma	Substitution - Missense
c.202C>G; p.R68G; 12:14696247-14696247	skin	malignant_melanoma	Substitution - Missense
c.1874G>A; p.R625K; 12:14643630-14643630	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2158G>A; p.V720M; 12:14628737-14628737	skin	malignant_melanoma	Substitution - Missense
c.2558A>T; p.Y853F; 12:14622048-14622048	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2270delA; p.N757fs*8; 12:14625895-14625895	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1373G>A; p.R458K; 12:14656609-14656609	skin	malignant_melanoma	Substitution - Missense
c.2270delA; p.N757fs*8; 12:14625895-14625895	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2270delA; p.N757fs*8; 12:14625895-14625895	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2270delA; p.N757fs*8; 12:14625895-14625895	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2270delA; p.N757fs*8; 12:14625895-14625895	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1594G>C; p.E532Q; 12:14651970-14651970	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1594G>C; p.E532Q; 12:14651970-14651970	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.723G>A; p.R241R; 12:14681366-14681366	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1958G>A; p.R653H; 12:14641192-14641192	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.362G>T; p.G121V; 12:14686194-14686194	breast	carcinoma	Substitution - Missense
c.2318G>A; p.R773Q; 12:14625847-14625847	breast	carcinoma	Substitution - Missense
c.696T>C; p.F232F; 12:14681393-14681393	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1420G>A; p.E474K; 12:14656562-14656562	skin	malignant_melanoma	Substitution - Missense
c.1550A>T; p.D517V; 12:14652014-14652014	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1272T>C; p.I424I; 12:14669732-14669732	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1011G>T; p.K337N; 12:14674698-14674698	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3204G>A; p.K1068K; 12:14613135-14613135	skin	malignant_melanoma	Substitution - coding silent
c.894G>A; p.T298T; 12:14676908-14676908	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1645G>C; p.G549R; 12:14651472-14651472	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.286C>T; p.R96W; 12:14687995-14687995	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.2983G>A; p.E995K; 12:14614931-14614931	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1438G>C; p.E480Q; 12:14656544-14656544	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1170+1G>T; p.?; 12:14672872-14672872	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.873G>A; p.M291I; 12:14676929-14676929	skin	malignant_melanoma	Substitution - Missense
c.873G>A; p.M291I; 12:14676929-14676929	skin	malignant_melanoma	Substitution - Missense
c.2046T>C; p.T682T; 12:14641104-14641104	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2390A>G; p.N797S; 12:14625775-14625775	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.259G>T; p.G87C; 12:14688022-14688022	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.138C>T; p.A46A; 12:14696311-14696311	skin	malignant_melanoma	Substitution - coding silent
c.442G>A; p.G148R; 12:14683211-14683211	skin	malignant_melanoma	Substitution - Missense
c.3134A>G; p.Q1045R; 12:14613205-14613205	skin	malignant_melanoma	Substitution - Missense
c.2085G>A; p.V695V; 12:14639934-14639934	skin	malignant_melanoma	Substitution - coding silent
c.340C>T; p.R114W; 12:14686216-14686216	skin	malignant_melanoma	Substitution - Missense
c.1381T>A; p.Y461N; 12:14656601-14656601	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2931C>T; p.C977C; 12:14616672-14616672	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2016G>A; p.E672E; 12:14641134-14641134	skin	malignant_melanoma	Substitution - coding silent
c.714C>T; p.D238D; 12:14681375-14681375	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1671C>A; p.I557I; 12:14651446-14651446	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1039A>G; p.T347A; 12:14674670-14674670	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.334G>A; p.A112T; 12:14686222-14686222	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2401C>T; p.L801F; 12:14625764-14625764	ovary	other; neoplasm	Substitution - Missense
c.2401C>T; p.L801F; 12:14625764-14625764	ovary	other; neoplasm	Substitution - Missense
c.733+9A>T; p.?; 12:14681347-14681347	liver	carcinoma	Unknown
c.733+9A>T; p.?; 12:14681347-14681347	liver	carcinoma	Unknown
c.733+9A>T; p.?; 12:14681347-14681347	liver	carcinoma; hepatocellular_carcinoma	Unknown
c.1046C>A; p.P349H; 12:14674663-14674663	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2177_2178insA; p.N726fs*17; 12:14628717-14628718	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.149C>T; p.P50L; 12:14696300-14696300	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2815C>T; p.R939C; 12:14619271-14619271	skin	malignant_melanoma	Substitution - Missense
c.1703C>G; p.S568C; 12:14651414-14651414	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1136T>G; p.M379R; 12:14672907-14672907	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.637G>A; p.V213I; 12:14681452-14681452	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2052C>T; p.S684S; 12:14641098-14641098	skin	malignant_melanoma	Substitution - coding silent
c.470T>C; p.L157S; 12:14683183-14683183	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1170+2T>G; p.?; 12:14672871-14672871	breast	carcinoma	Unknown
c.2837C>A; p.T946K; 12:14619249-14619249	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2837C>A; p.T946K; 12:14619249-14619249	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2837C>A; p.T946K; 12:14619249-14619249	large_intestine; colon	carcinoma	Substitution - Missense
c.2837C>A; p.T946K; 12:14619249-14619249	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.535G>A; p.D179N; 12:14683118-14683118	skin	malignant_melanoma	Substitution - Missense
c.535G>A; p.D179N; 12:14683118-14683118	skin; trunk	malignant_melanoma	Substitution - Missense
c.24G>A; p.L8L; 12:14696425-14696425	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2094C>T; p.S698S; 12:14639925-14639925	skin	malignant_melanoma	Substitution - coding silent
c.2949G>A; p.V983V; 12:14616654-14616654	liver	carcinoma	Substitution - coding silent
c.2968A>C; p.K990Q; 12:14616635-14616635	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2949G>A; p.V983V; 12:14616654-14616654	liver	carcinoma	Substitution - coding silent
c.3038delC; p.P1013fs*17; 12:14614876-14614876	liver	carcinoma	Deletion - Frameshift
c.463G>T; p.E155*; 12:14683190-14683190	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1021G>A; p.E341K; 12:14674688-14674688	skin	malignant_melanoma	Substitution - Missense
c.51C>A; p.P17P; 12:14696398-14696398	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent

COSMIC somatic mutation [Top]