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 summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.15.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

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

Mutation summary in protein domains

Top

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]