Entrez Gene

Basic Information
Gene ID	3690
Name	ITGB3
Synonymous	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61);ITGB3;integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
Definition	integrin beta-3\|platelet membrane glycoprotein IIIa
Position	17q21.32
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 0.10.

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.1959C>T; p.D653D; 17:47300523-47300523	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1959C>T; p.D653D; 17:47300523-47300523	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1923G>A; p.V641V; 17:47300487-47300487	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.62delC; p.A21fs*5; 17:47253923-47253923	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2357G>A; p.R786Q; 17:47310194-47310194	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.555G>A; p.K185K; 17:47284636-47284636	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1476G>A; p.W492*; 17:47292354-47292354	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1850C>T; p.P617L; 17:47299467-47299467	ovary	other; neoplasm	Substitution - Missense
c.332C>A; p.P111H; 17:47283520-47283520	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1850C>T; p.P617L; 17:47299467-47299467	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.1232C>A; p.S411Y; 17:47291060-47291060	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1651G>A; p.D551N; 17:47292529-47292529	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1799T>A; p.L600Q; 17:47299416-47299416	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.852G>A; p.L284L; 17:47287144-47287144	skin	malignant_melanoma	Substitution - coding silent
c.364G>T; p.D122Y; 17:47284445-47284445	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.977C>T; p.S326F; 17:47289718-47289718	skin	malignant_melanoma	Substitution - Missense
c.1944G>C; p.R648R; 17:47300508-47300508	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1188C>G; p.F396L; 17:47291016-47291016	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.889G>A; p.G297R; 17:47287181-47287181	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; myelofibrosis	Substitution - Missense
c.606C>T; p.P202P; 17:47284687-47284687	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.153G>C; p.W51C; 17:47274492-47274492	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.614A>C; p.D205A; 17:47284695-47284695	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1696G>A; p.G566S; 17:47299313-47299313	skin	malignant_melanoma	Substitution - Missense
c.175C>T; p.L59L; 17:47283363-47283363	skin	malignant_melanoma	Substitution - coding silent
c.1316C>T; p.S439F; 17:47292194-47292194	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.447C>T; p.S149S; 17:47284528-47284528	skin	malignant_melanoma	Substitution - coding silent
c.323A>G; p.Q108R; 17:47283511-47283511	skin	malignant_melanoma	Substitution - Missense
c.1463G>A; p.C488Y; 17:47292341-47292341	prostate	carcinoma	Substitution - Missense
c.1253G>A; p.G418E; 17:47291081-47291081	skin	malignant_melanoma	Substitution - Missense
c.1361A>C; p.Q454P; 17:47292239-47292239	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1184C>T; p.S395F; 17:47291012-47291012	skin	malignant_melanoma	Substitution - Missense
c.985A>G; p.N329D; 17:47289726-47289726	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.369G>A; p.S123S; 17:47284450-47284450	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.369G>A; p.S123S; 17:47284450-47284450	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1607G>A; p.S536N; 17:47292485-47292485	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1886C>T; p.T629I; 17:47299503-47299503	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1228A>G; p.K410E; 17:47291056-47291056	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1864G>A; p.D622N; 17:47299481-47299481	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1864G>A; p.D622N; 17:47299481-47299481	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.187C>T; p.R63C; 17:47283375-47283375	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.432G>A; p.M144I; 17:47284513-47284513	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1530C>T; p.D510D; 17:47292408-47292408	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1451G>A; p.G484E; 17:47292329-47292329	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1451G>A; p.G484E; 17:47292329-47292329	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.598G>A; p.E200K; 17:47284679-47284679	skin	malignant_melanoma	Substitution - Missense
c.598G>A; p.E200K; 17:47284679-47284679	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2245G>A; p.D749N; 17:47307581-47307581	skin	malignant_melanoma	Substitution - Missense
c.1264A>G; p.S422G; 17:47292142-47292142	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2248C>T; p.R750*; 17:47307584-47307584	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1690+1G>A; p.?; 17:47292569-47292569	large_intestine	carcinoma; adenocarcinoma	Unknown
c.2248C>T; p.R750*; 17:47307584-47307584	skin	malignant_melanoma	Substitution - Nonsense
c.2071G>A; p.V691I; 17:47302777-47302777	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1520C>T; p.S507F; 17:47292398-47292398	skin	malignant_melanoma	Substitution - Missense
c.2071G>A; p.V691I; 17:47302777-47302777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1520C>T; p.S507F; 17:47292398-47292398	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2071G>A; p.V691I; 17:47302777-47302777	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.694G>T; p.E232*; 17:47286339-47286339	breast	carcinoma	Substitution - Nonsense
c.935C>A; p.T312N; 17:47287227-47287227	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.935C>A; p.T312N; 17:47287227-47287227	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1497C>T; p.C499C; 17:47292375-47292375	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1770T>G; p.T590T; 17:47299387-47299387	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2249G>A; p.R750Q; 17:47307585-47307585	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2249G>A; p.R750Q; 17:47307585-47307585	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1514G>A; p.R505H; 17:47292392-47292392	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1573G>T; p.G525C; 17:47292451-47292451	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1957G>A; p.D653N; 17:47300521-47300521	skin	malignant_melanoma	Substitution - Missense
c.1155G>A; p.V385V; 17:47290983-47290983	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.204G>T; p.E68D; 17:47283392-47283392	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1236T>C; p.C412C; 17:47291064-47291064	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1027C>A; p.L343I; 17:47289768-47289768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1027C>T; p.L343F; 17:47289768-47289768	skin	malignant_melanoma	Substitution - Missense
c.1344G>A; p.K448K; 17:47292222-47292222	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1539delC; p.R515fs*154; 17:47292417-47292417	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2073C>A; p.V691V; 17:47302779-47302779	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.240C>T; p.I80I; 17:47283428-47283428	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1510T>C; p.Y504H; 17:47292388-47292388	skin	malignant_melanoma	Substitution - Missense
c.2265A>G; p.K755K; 17:47307601-47307601	skin	malignant_melanoma	Substitution - coding silent
c.289G>A; p.D97N; 17:47283477-47283477	skin	malignant_melanoma	Substitution - Missense
c.1875G>A; p.E625E; 17:47299492-47299492	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.594C>T; p.A198A; 17:47284675-47284675	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1025A>G; p.N342S; 17:47289766-47289766	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.368C>T; p.S123L; 17:47284449-47284449	breast	carcinoma	Substitution - Missense
c.1769C>G; p.T590S; 17:47299386-47299386	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1990G>A; p.E664K; 17:47300554-47300554	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.506G>A; p.R169Q; 17:47284587-47284587	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2309A>G; p.N770S; 17:47310146-47310146	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1812C>T; p.R604R; 17:47299429-47299429	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1356C>T; p.I452I; 17:47292234-47292234	skin	malignant_melanoma	Substitution - coding silent
c.1812C>T; p.R604R; 17:47299429-47299429	pancreas	carcinoma	Substitution - coding silent
c.467G>T; p.S156I; 17:47284548-47284548	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2032G>T; p.A678S; 17:47302738-47302738	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2032G>T; p.A678S; 17:47302738-47302738	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2032G>T; p.A678S; 17:47302738-47302738	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2032G>T; p.A678S; 17:47302738-47302738	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2032G>T; p.A678S; 17:47302738-47302738	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2032G>T; p.A678S; 17:47302738-47302738	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2149C>T; p.P717S; 17:47307485-47307485	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1558G>A; p.V520I; 17:47292436-47292436	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.890G>A; p.G297E; 17:47287182-47287182	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.771C>A; p.V257V; 17:47286416-47286416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.771C>A; p.V257V; 17:47286416-47286416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1506G>A; p.E502E; 17:47292384-47292384	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1064C>T; p.T355I; 17:47290213-47290213	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1800G>A; p.L600L; 17:47299417-47299417	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1459C>T; p.R487C; 17:47292337-47292337	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1513C>T; p.R505C; 17:47292391-47292391	skin	malignant_melanoma	Substitution - Missense
c.1531G>A; p.E511K; 17:47292409-47292409	skin	malignant_melanoma	Substitution - Missense
c.1132C>T; p.R378C; 17:47290960-47290960	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1132C>T; p.R378C; 17:47290960-47290960	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1533A>G; p.E511E; 17:47292411-47292411	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.480G>T; p.L160L; 17:47284561-47284561	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1533A>G; p.E511E; 17:47292411-47292411	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.700A>T; p.K234*; 17:47286345-47286345	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Nonsense
c.1533A>G; p.E511E; 17:47292411-47292411	thyroid	other; neoplasm	Substitution - coding silent
c.1533A>G; p.E511E; 17:47292411-47292411	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1899C>A; p.A633A; 17:47299516-47299516	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1943delG; p.G649fs*20; 17:47300507-47300507	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.137G>A; p.S46N; 17:47274476-47274476	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1087T>A; p.S363T; 17:47290236-47290236	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2196C>T; p.L732L; 17:47307532-47307532	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1134T>C; p.R378R; 17:47290962-47290962	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1243C>G; p.L415V; 17:47291071-47291071	oesophagus	carcinoma	Substitution - Missense
c.2191C>G; p.L731V; 17:47307527-47307527	urinary_tract; bladder	carcinoma	Substitution - Missense
c.479T>C; p.L160P; 17:47284560-47284560	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2259C>A; p.F753L; 17:47307595-47307595	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1303G>T; p.E435*; 17:47292181-47292181	skin; extremity	malignant_melanoma	Substitution - Nonsense
c.1261-1G>T; p.?; 17:47292138-47292138	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2327C>T; p.A776V; 17:47310164-47310164	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1132C>G; p.R378G; 17:47290960-47290960	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.474G>A; p.Q158Q; 17:47284555-47284555	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.355C>T; p.R119W; 17:47283543-47283543	skin	malignant_melanoma	Substitution - Missense
c.1083G>A; p.M361I; 17:47290232-47290232	skin; trunk	malignant_melanoma	Substitution - Missense
c.326T>G; p.V109G; 17:47283514-47283514	breast	carcinoma	Substitution - Missense
c.58C>T; p.L20L; 17:47253919-47253919	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1043G>A; p.S348N; 17:47290192-47290192	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1496G>C; p.C499S; 17:47292374-47292374	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.872T>C; p.I291T; 17:47287164-47287164	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.801T>C; p.D267D; 17:47287093-47287093	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.783G>A; p.K261K; 17:47287075-47287075	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1883_1884CC>AA; p.P628Q; 17:47299500-47299501	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.526C>A; p.R176R; 17:47284607-47284607	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.432G>C; p.M144I; 17:47284513-47284513	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.505C>A; p.R169R; 17:47284586-47284586	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2105A>C; p.K702T; 17:47302811-47302811	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2011C>T; p.L671F; 17:47300575-47300575	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2306A>G; p.N769S; 17:47310143-47310143	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.191G>C; p.C64S; 17:47283379-47283379	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.403G>A; p.D135N; 17:47284484-47284484	skin	malignant_melanoma	Substitution - Missense
c.236C>T; p.S79F; 17:47283424-47283424	skin	malignant_melanoma	Substitution - Missense
c.581C>T; p.S194F; 17:47284662-47284662	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.585A>C; p.P195P; 17:47284666-47284666	breast	carcinoma	Substitution - coding silent
c.1012G>A; p.E338K; 17:47289753-47289753	thyroid	carcinoma	Substitution - Missense
c.1977T>C; p.R659R; 17:47300541-47300541	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1029C>A; p.L343L; 17:47289770-47289770	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2254G>T; p.E752*; 17:47307590-47307590	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1543C>T; p.R515W; 17:47292421-47292421	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1451G>T; p.G484V; 17:47292329-47292329	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1766G>A; p.R589H; 17:47299383-47299383	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1766G>A; p.R589H; 17:47299383-47299383	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1545G>A; p.R515R; 17:47292423-47292423	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1766G>A; p.R589H; 17:47299383-47299383	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1545G>A; p.R515R; 17:47292423-47292423	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1545G>A; p.R515R; 17:47292423-47292423	thyroid	other; neoplasm	Substitution - coding silent
c.1766G>A; p.R589H; 17:47299383-47299383	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1766G>A; p.R589H; 17:47299383-47299383	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1766G>A; p.R589H; 17:47299383-47299383	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1156C>T; p.R386C; 17:47290984-47290984	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1080C>T; p.S360S; 17:47290229-47290229	skin	malignant_melanoma	Substitution - coding silent
c.569A>G; p.Y190C; 17:47284650-47284650	breast	carcinoma; ductal_carcinoma	Substitution - Missense
c.2317T>C; p.Y773H; 17:47310154-47310154	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1629G>A; p.T543T; 17:47292507-47292507	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.771C>T; p.V257V; 17:47286416-47286416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.93T>C; p.C31C; 17:47274432-47274432	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.93T>C; p.C31C; 17:47274432-47274432	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1333G>A; p.V445M; 17:47292211-47292211	pancreas	carcinoma	Substitution - Missense
c.150C>T; p.A50A; 17:47274489-47274489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.764C>A; p.A255D; 17:47286409-47286409	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1459C>A; p.R487S; 17:47292337-47292337	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1563C>T; p.C521C; 17:47292441-47292441	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2260G>A; p.A754T; 17:47307596-47307596	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2089G>A; p.E697K; 17:47302795-47302795	skin	malignant_melanoma	Substitution - Missense
c.222_226delCTGTG; p.C75fs*10; 17:47283410-47283414	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - Frameshift
c.1789A>G; p.N597D; 17:47299406-47299406	breast	carcinoma	Substitution - Missense
c.1481G>A; p.G494E; 17:47292359-47292359	NS	malignant_melanoma	Substitution - Missense
c.1106T>G; p.L369R; 17:47290255-47290255	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1481G>A; p.G494E; 17:47292359-47292359	NS	malignant_melanoma	Substitution - Missense
c.1094A>G; p.N365S; 17:47290243-47290243	breast	carcinoma	Substitution - Missense
c.350G>A; p.R117Q; 17:47283538-47283538	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.454G>T; p.D152Y; 17:47284535-47284535	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.865G>A; p.A289T; 17:47287157-47287157	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.526C>T; p.R176W; 17:47284607-47284607	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.526C>T; p.R176W; 17:47284607-47284607	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.526C>T; p.R176W; 17:47284607-47284607	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2323G>A; p.E775K; 17:47310160-47310160	skin	malignant_melanoma	Substitution - Missense
c.1560C>T; p.V520V; 17:47292438-47292438	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent

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]