Entrez Gene

Basic Information
Gene ID	2049
Name	EPHB3
Synonymous	EPH receptor B3;EPHB3;EPH receptor B3
Definition	EK2\|EPH-like kinase 2\|EPH-like tyrosine kinase 2\|EPH-like tyrosine kinase-2\|embryonic kinase 2\|ephrin type-B receptor 3\|human embryo kinase 2\|tyrosine-protein kinase TYRO6
Position	3q27.1
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 0.05.

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.1622A>G; p.E541G; 3:184577800-184577800	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1907A>C; p.E636A; 3:184579582-184579582	kidney	other; neoplasm	Substitution - Missense
c.658G>A; p.A220T; 3:184572978-184572978	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.2979G>A; p.T993T; 3:184581604-184581604	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1520C>T; p.S507F; 3:184577698-184577698	skin; face	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1172G>A; p.R391H; 3:184577001-184577001	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2332G>T; p.G778C; 3:184580561-184580561	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1656G>A; p.Q552Q; 3:184577914-184577914	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2129T>C; p.L710P; 3:184579891-184579891	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2384C>T; p.S795F; 3:184580613-184580613	skin	malignant_melanoma	Substitution - Missense
c.2858C>T; p.S953F; 3:184581378-184581378	skin	malignant_melanoma	Substitution - Missense
c.2384C>T; p.S795F; 3:184580613-184580613	skin	malignant_melanoma	Substitution - Missense
c.554C>T; p.S185F; 3:184572874-184572874	skin	malignant_melanoma	Substitution - Missense
c.2437C>T; p.R813W; 3:184580777-184580777	skin	malignant_melanoma	Substitution - Missense
c.536G>A; p.R179H; 3:184572856-184572856	liver	carcinoma	Substitution - Missense
c.536G>A; p.R179H; 3:184572856-184572856	liver	carcinoma	Substitution - Missense
c.2437C>T; p.R813W; 3:184580777-184580777	skin	malignant_melanoma	Substitution - Missense
c.1818G>T; p.K606N; 3:184579493-184579493	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.845C>T; p.S282F; 3:184573165-184573165	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.158C>A; p.A53E; 3:184571357-184571357	urinary_tract; bladder	carcinoma	Substitution - Missense
c.741G>T; p.E247D; 3:184573061-184573061	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2733-7C>T; p.?; 3:184581246-184581246	skin; head_neck	malignant_melanoma; superficial_spreading	Unknown
c.875A>G; p.Y292C; 3:184575848-184575848	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2582T>C; p.M861T; 3:184581015-184581015	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2196C>T; p.V732V; 3:184580425-184580425	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2987T>C; p.V996A; 3:184581612-184581612	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.688G>C; p.E230Q; 3:184573008-184573008	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1210G>T; p.G404C; 3:184577039-184577039	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1436C>T; p.P479L; 3:184577424-184577424	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1084C>T; p.P362S; 3:184576913-184576913	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1084C>T; p.P362S; 3:184576913-184576913	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2573C>G; p.P858R; 3:184581006-184581006	skin	malignant_melanoma	Substitution - Missense
c.2573C>G; p.P858R; 3:184581006-184581006	skin	malignant_melanoma	Substitution - Missense
c.2501A>G; p.Y834C; 3:184580841-184580841	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1884C>T; p.I628I; 3:184579559-184579559	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2721C>T; p.S907S; 3:184581154-184581154	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2170C>T; p.R724W; 3:184579932-184579932	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2170C>T; p.R724W; 3:184579932-184579932	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1887C>T; p.D629D; 3:184579562-184579562	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1887C>T; p.D629D; 3:184579562-184579562	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1326G>A; p.A442A; 3:184577155-184577155	liver	carcinoma	Substitution - coding silent
c.1326G>A; p.A442A; 3:184577155-184577155	liver	carcinoma	Substitution - coding silent
c.2245C>A; p.L749M; 3:184580474-184580474	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1073A>C; p.E358A; 3:184576902-184576902	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1521C>T; p.S507S; 3:184577699-184577699	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2086C>T; p.R696W; 3:184579848-184579848	skin	malignant_melanoma	Substitution - Missense
c.310C>T; p.R104W; 3:184572630-184572630	pancreas	carcinoma; acinar_carcinoma	Substitution - Missense
c.2756G>A; p.R919H; 3:184581276-184581276	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2849G>T; p.G950V; 3:184581369-184581369	thyroid	other; neoplasm	Substitution - Missense
c.221C>A; p.P74H; 3:184572541-184572541	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2412G>T; p.W804C; 3:184580752-184580752	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1049T>C; p.V350A; 3:184576878-184576878	liver	carcinoma	Substitution - Missense
c.802G>T; p.A268S; 3:184573122-184573122	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.802G>T; p.A268S; 3:184573122-184573122	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2630G>A; p.R877Q; 3:184581063-184581063	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1086C>A; p.P362P; 3:184576915-184576915	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.857-8T>C; p.?; 3:184575822-184575822	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1678A>C; p.I560L; 3:184577936-184577936	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.857-8T>C; p.?; 3:184575822-184575822	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.1127T>C; p.I376T; 3:184576956-184576956	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2456G>C; p.S819T; 3:184580796-184580796	breast	carcinoma	Substitution - Missense
c.2636G>A; p.R879Q; 3:184581069-184581069	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; peripheral_T_cell_lymphoma_unspecified	Substitution - Missense
c.571C>T; p.L191L; 3:184572891-184572891	skin	malignant_melanoma	Substitution - coding silent
c.1674C>T; p.P558P; 3:184577932-184577932	skin	malignant_melanoma	Substitution - coding silent
c.2307C>A; p.N769K; 3:184580536-184580536	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2216T>C; p.L739S; 3:184580445-184580445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.892_895delGAGG; p.E298fs*48; 3:184575865-184575868	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2642T>A; p.L881H; 3:184581075-184581075	breast	carcinoma	Substitution - Missense
c.2921G>A; p.G974D; 3:184581546-184581546	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.405C>T; p.Y135Y; 3:184572725-184572725	liver	carcinoma	Substitution - coding silent
c.1683G>A; p.V561V; 3:184577941-184577941	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.405C>T; p.Y135Y; 3:184572725-184572725	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2339C>T; p.S780F; 3:184580568-184580568	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1086C>T; p.P362P; 3:184576915-184576915	skin	malignant_melanoma	Substitution - coding silent
c.1086C>T; p.P362P; 3:184576915-184576915	skin	malignant_melanoma	Substitution - coding silent
c.1494C>T; p.A498A; 3:184577672-184577672	skin	malignant_melanoma	Substitution - coding silent
c.2271C>T; p.R757R; 3:184580500-184580500	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1582G>A; p.V528I; 3:184577760-184577760	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2392G>A; p.G798R; 3:184580732-184580732	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1577G>A; p.R526H; 3:184577755-184577755	liver	carcinoma	Substitution - Missense
c.1577G>A; p.R526H; 3:184577755-184577755	liver	carcinoma	Substitution - Missense
c.1577G>A; p.R526H; 3:184577755-184577755	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1902G>T; p.K634N; 3:184579577-184579577	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1211G>T; p.G404V; 3:184577040-184577040	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2211C>T; p.G737G; 3:184580440-184580440	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2111G>T; p.S704I; 3:184579873-184579873	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2179G>A; p.D727N; 3:184580408-184580408	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2680A>G; p.K894E; 3:184581113-184581113	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2843G>C; p.S948T; 3:184581363-184581363	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.2631G>A; p.R877R; 3:184581064-184581064	skin	malignant_melanoma	Substitution - coding silent
c.2751G>A; p.L917L; 3:184581271-184581271	skin	malignant_melanoma	Substitution - coding silent
c.1603A>T; p.S535C; 3:184577781-184577781	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.703G>A; p.V235I; 3:184573023-184573023	liver	carcinoma	Substitution - Missense
c.716G>T; p.G239V; 3:184573036-184573036	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1515G>A; p.M505I; 3:184577693-184577693	skin; trunk	malignant_melanoma; nodular	Substitution - Missense
c.1550C>T; p.A517V; 3:184577728-184577728	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2283T>C; p.A761A; 3:184580512-184580512	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2283T>C; p.A761A; 3:184580512-184580512	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1440C>T; p.N480N; 3:184577428-184577428	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.429A>G; p.S143S; 3:184572749-184572749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.341G>A; p.R114H; 3:184572661-184572661	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1072G>A; p.E358K; 3:184576901-184576901	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1737C>T; p.I579I; 3:184577995-184577995	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1201C>A; p.R401R; 3:184577030-184577030	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.261C>T; p.S87S; 3:184572581-184572581	skin	malignant_melanoma	Substitution - coding silent
c.235C>G; p.Q79E; 3:184572555-184572555	pancreas	carcinoma	Substitution - Missense
c.1535G>C; p.G512A; 3:184577713-184577713	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1453G>T; p.D485Y; 3:184577441-184577441	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.617G>A; p.R206H; 3:184572937-184572937	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1535G>C; p.G512A; 3:184577713-184577713	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - Missense
c.1967G>T; p.G656V; 3:184579729-184579729	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1435C>T; p.P479S; 3:184577423-184577423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.657C>T; p.F219F; 3:184572977-184572977	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2256G>A; p.M752I; 3:184580485-184580485	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2256G>A; p.M752I; 3:184580485-184580485	skin	malignant_melanoma	Substitution - Missense
c.2001G>A; p.L667L; 3:184579763-184579763	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1227G>T; p.R409R; 3:184577056-184577056	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1746C>T; p.L582L; 3:184578004-184578004	breast	carcinoma	Substitution - coding silent
c.2293C>T; p.L765F; 3:184580522-184580522	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2359C>T; p.P787S; 3:184580588-184580588	skin	malignant_melanoma	Substitution - Missense
c.277C>T; p.R93C; 3:184572597-184572597	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1483G>A; p.E495K; 3:184577661-184577661	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.933C>T; p.T311T; 3:184575906-184575906	skin	malignant_melanoma	Substitution - coding silent
c.1916T>A; p.I639N; 3:184579591-184579591	prostate	carcinoma	Substitution - Missense
c.1946G>C; p.R649P; 3:184579708-184579708	breast	carcinoma	Substitution - Missense
c.2217G>C; p.L739F; 3:184580446-184580446	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2722G>A; p.A908T; 3:184581155-184581155	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1563C>T; p.V521V; 3:184577741-184577741	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.411T>C; p.A137A; 3:184572731-184572731	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.574G>A; p.A192T; 3:184572894-184572894	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2730T>C; p.S910S; 3:184581163-184581163	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2760G>A; p.T920T; 3:184581280-184581280	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2760G>A; p.T920T; 3:184581280-184581280	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2760G>A; p.T920T; 3:184581280-184581280	thyroid	other; neoplasm	Substitution - coding silent
c.2821C>T; p.R941W; 3:184581341-184581341	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.165A>G; p.T55T; 3:184571364-184571364	prostate	adenoma	Substitution - coding silent
c.165A>G; p.T55T; 3:184571364-184571364	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.165A>G; p.T55T; 3:184571364-184571364	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.486C>T; p.P162P; 3:184572806-184572806	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1071C>T; p.L357L; 3:184576900-184576900	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1879G>C; p.E627Q; 3:184579554-184579554	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2152G>T; p.A718S; 3:184579914-184579914	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2232C>T; p.A744A; 3:184580461-184580461	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.2215T>C; p.L739L; 3:184580444-184580444	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1694C>T; p.T565I; 3:184577952-184577952	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.536G>T; p.R179L; 3:184572856-184572856	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.487G>C; p.D163H; 3:184572807-184572807	thyroid	other; neoplasm	Substitution - Missense
c.503G>T; p.R168L; 3:184572823-184572823	lung	carcinoma	Substitution - Missense
c.503G>T; p.R168L; 3:184572823-184572823	lung	carcinoma	Substitution - Missense
c.2047G>A; p.A683T; 3:184579809-184579809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2017G>A; p.E673K; 3:184579779-184579779	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2017G>A; p.E673K; 3:184579779-184579779	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.346T>C; p.C116R; 3:184572666-184572666	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2983C>T; p.P995S; 3:184581608-184581608	breast	carcinoma	Substitution - Missense
c.776A>G; p.D259G; 3:184573096-184573096	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.591C>T; p.G197G; 3:184572911-184572911	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2273A>G; p.D758G; 3:184580502-184580502	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1924+7C>T; p.?; 3:184579606-184579606	pancreas	carcinoma	Unknown
c.2859T>C; p.S953S; 3:184581379-184581379	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1008T>C; p.C336C; 3:184575981-184575981	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1008T>C; p.C336C; 3:184575981-184575981	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2990A>G; p.Q997R; 3:184581615-184581615	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.281C>T; p.T94M; 3:184572601-184572601	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2839G>T; p.V947F; 3:184581359-184581359	breast	carcinoma	Substitution - Missense
c.1552C>A; p.R518S; 3:184577730-184577730	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2458G>A; p.D820N; 3:184580798-184580798	breast	carcinoma	Substitution - Missense
c.1318C>T; p.R440C; 3:184577147-184577147	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2162_2163CC>TT; p.S721F; 3:184579924-184579925	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2151C>T; p.C717C; 3:184579913-184579913	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1255A>G; p.T419A; 3:184577084-184577084	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.855C>T; p.R285R; 3:184573175-184573175	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2046G>A; p.E682E; 3:184579808-184579808	skin	malignant_melanoma	Substitution - coding silent
c.1839C>T; p.T613T; 3:184579514-184579514	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2171G>A; p.R724Q; 3:184579933-184579933	NS	malignant_melanoma	Substitution - Missense
c.2171G>A; p.R724Q; 3:184579933-184579933	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.2777C>T; p.T926I; 3:184581297-184581297	skin	malignant_melanoma	Substitution - Missense
c.2171G>A; p.R724Q; 3:184579933-184579933	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2171G>A; p.R724Q; 3:184579933-184579933	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2171G>A; p.R724Q; 3:184579933-184579933	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.319G>C; p.V107L; 3:184572639-184572639	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1492G>A; p.A498T; 3:184577670-184577670	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.741G>A; p.E247E; 3:184573061-184573061	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.741G>A; p.E247E; 3:184573061-184573061	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.741G>A; p.E247E; 3:184573061-184573061	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.741G>A; p.E247E; 3:184573061-184573061	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.1518C>T; p.N506N; 3:184577696-184577696	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1537C>T; p.L513F; 3:184577715-184577715	skin	malignant_melanoma	Substitution - Missense
c.1352C>T; p.A451V; 3:184577181-184577181	skin	malignant_melanoma	Substitution - Missense
c.2101G>T; p.V701F; 3:184579863-184579863	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.955A>C; p.T319P; 3:184575928-184575928	thyroid	other; neoplasm	Substitution - Missense
c.955A>C; p.T319P; 3:184575928-184575928	thyroid	other; neoplasm	Substitution - Missense
c.159G>A; p.A53A; 3:184571358-184571358	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.220C>T; p.P74S; 3:184572540-184572540	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2178C>A; p.N726K; 3:184580407-184580407	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2898delC; p.R967fs*14; 3:184581523-184581523	skin; neck	malignant_melanoma	Deletion - Frameshift
c.2113C>T; p.R705W; 3:184579875-184579875	skin	malignant_melanoma	Substitution - Missense
c.915C>T; p.P305P; 3:184575888-184575888	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.2212A>T; p.M738L; 3:184580441-184580441	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2016C>T; p.T672T; 3:184579778-184579778	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2365G>A; p.D789N; 3:184580594-184580594	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1151G>C; p.G384A; 3:184576980-184576980	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1151G>C; p.G384A; 3:184576980-184576980	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2848G>A; p.G950R; 3:184581368-184581368	skin	malignant_melanoma	Substitution - Missense
c.2324C>T; p.S775L; 3:184580553-184580553	skin	malignant_melanoma	Substitution - Missense
c.608delT; p.I203fs*144; 3:184572928-184572928	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.2838C>T; p.F946F; 3:184581358-184581358	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1614C>T; p.A538A; 3:184577792-184577792	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1533C>T; p.D511D; 3:184577711-184577711	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2709G>A; p.K903K; 3:184581142-184581142	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - coding silent
c.667C>T; p.P223S; 3:184572987-184572987	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1865G>A; p.R622Q; 3:184579540-184579540	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2900G>T; p.R967L; 3:184581525-184581525	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1854T>A; p.N618K; 3:184579529-184579529	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1696G>A; p.A566T; 3:184577954-184577954	skin	malignant_melanoma	Substitution - Missense
c.254A>G; p.E85G; 3:184572574-184572574	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2363C>T; p.S788F; 3:184580592-184580592	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2480T>C; p.V827A; 3:184580820-184580820	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1710C>T; p.F570F; 3:184577968-184577968	skin	malignant_melanoma	Substitution - coding silent
c.1855G>A; p.E619K; 3:184579530-184579530	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2450C>T; p.S817F; 3:184580790-184580790	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2733C>G; p.G911G; 3:184581253-184581253	ovary	other; neoplasm	Substitution - coding silent
c.898C>T; p.P300S; 3:184575871-184575871	skin	malignant_melanoma	Substitution - Missense
c.2733C>G; p.G911G; 3:184581253-184581253	ovary	other; neoplasm	Substitution - coding silent
c.2450C>T; p.S817F; 3:184580790-184580790	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2059G>T; p.G687C; 3:184579821-184579821	pancreas	carcinoma	Substitution - Missense
c.2029delC; p.R677fs*4; 3:184579791-184579791	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2959C>T; p.R987W; 3:184581584-184581584	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.952T>C; p.C318R; 3:184575925-184575925	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2284C>T; p.R762C; 3:184580513-184580513	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1549G>A; p.A517T; 3:184577727-184577727	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2161_2162insA; p.S721fs*66; 3:184579923-184579924	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Insertion - Frameshift
c.1325C>T; p.A442V; 3:184577154-184577154	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1672C>T; p.P558S; 3:184577930-184577930	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2125A>C; p.I709L; 3:184579887-184579887	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.453_454insA; p.N152fs*13; 3:184572773-184572774	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1206G>C; p.Q402H; 3:184577035-184577035	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2985T>C; p.P995P; 3:184581610-184581610	breast	carcinoma	Substitution - coding silent
c.173C>T; p.P58L; 3:184571372-184571372	skin	malignant_melanoma	Substitution - Missense
c.2172+1_2172+2insT; p.?; 3:184579935-184579936	large_intestine	carcinoma; adenocarcinoma	Unknown
c.822C>T; p.G274G; 3:184573142-184573142	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2172+1_2172+2insT; p.?; 3:184579935-184579936	large_intestine	carcinoma; adenocarcinoma	Unknown
c.2231C>T; p.A744V; 3:184580460-184580460	ovary	other; neoplasm	Substitution - Missense
c.626A>G; p.Y209C; 3:184572946-184572946	pancreas	carcinoma	Substitution - Missense
c.649G>A; p.A217T; 3:184572969-184572969	stomach	carcinoma	Substitution - Missense
c.2114G>T; p.R705L; 3:184579876-184579876	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]