Entrez Gene

Basic Information
Gene ID	3685
Name	ITGAV
Synonymous	integrin, alpha V;ITGAV;integrin, alpha V
Definition	antigen identified by monoclonal antibody L230\|integrin alpha-V\|integrin alphaVbeta3\|integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)\|vitronectin receptor subunit alpha
Position	2q31-q32
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 0.17.

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.1016T>G; p.L339R; 2:186641445-186641445	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.3058delT; p.F1021fs*>28; 2:186677203-186677203	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.323G>C; p.R108T; 2:186622345-186622345	breast	carcinoma	Substitution - Missense
c.2249C>T; p.S750L; 2:186667152-186667152	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.30C>T; p.R10R; 2:186590368-186590368	skin	malignant_melanoma	Substitution - coding silent
c.2779T>C; p.L927L; 2:186675676-186675676	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.631+6T>C; p.?; 2:186633380-186633380	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Unknown
c.2524C>T; p.L842F; 2:186668852-186668852	skin	malignant_melanoma	Substitution - Missense
c.2583G>A; p.L861L; 2:186668911-186668911	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1619G>A; p.R540Q; 2:186656301-186656301	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.3083A>T; p.Q1028L; 2:186677228-186677228	NS	malignant_melanoma	Substitution - Missense
c.1001G>A; p.G334D; 2:186641430-186641430	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.3083A>T; p.Q1028L; 2:186677228-186677228	NS	malignant_melanoma	Substitution - Missense
c.1707A>T; p.I569I; 2:186656389-186656389	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1828C>T; p.Q610*; 2:186659146-186659146	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2856G>A; p.S952S; 2:186675855-186675855	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1195delA; p.G401fs*13; 2:186646721-186646721	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1195delA; p.G401fs*13; 2:186646721-186646721	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2044G>A; p.D682N; 2:186664612-186664612	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.772G>A; p.V258I; 2:186637079-186637079	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.3067C>T; p.R1023W; 2:186677212-186677212	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1010G>A; p.G337D; 2:186641439-186641439	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.483A>T; p.Q161H; 2:186625547-186625547	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2155G>T; p.A719S; 2:186665207-186665207	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.157G>T; p.V53L; 2:186590495-186590495	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1949G>T; p.G650V; 2:186664517-186664517	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.504G>T; p.E168D; 2:186625568-186625568	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2246G>T; p.S749I; 2:186666783-186666783	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.766G>A; p.V256M; 2:186637073-186637073	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2559T>C; p.T853T; 2:186668887-186668887	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2155G>A; p.A719T; 2:186665207-186665207	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2242C>T; p.Q748*; 2:186666779-186666779	skin; upper_back	malignant_melanoma	Substitution - Nonsense
c.1047A>G; p.L349L; 2:186641476-186641476	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.627G>A; p.W209*; 2:186633370-186633370	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1923T>A; p.D641E; 2:186663833-186663833	breast	carcinoma; basal_(triple-negative)_carcinoma	Substitution - Missense
c.1925G>C; p.S642T; 2:186663835-186663835	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2964G>A; p.A988A; 2:186676848-186676848	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2964G>A; p.A988A; 2:186676848-186676848	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2784delC; p.Y928fs*1; 2:186675681-186675681	stomach	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2691A>G; p.G897G; 2:186669799-186669799	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.280A>C; p.T94P; 2:186602115-186602115	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2336G>A; p.S779N; 2:186667679-186667679	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1437G>T; p.V479V; 2:186652021-186652021	breast	carcinoma	Substitution - coding silent
c.1990C>T; p.Q664*; 2:186664558-186664558	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.394C>T; p.Q132*; 2:186622416-186622416	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2037G>A; p.L679L; 2:186664605-186664605	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.153C>T; p.F51F; 2:186590491-186590491	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1109T>G; p.F370C; 2:186641538-186641538	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1228T>C; p.S410P; 2:186646754-186646754	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2487G>A; p.W829*; 2:186668815-186668815	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3073C>T; p.R1025W; 2:186677218-186677218	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1326_1327insAGATAT; p.T442_D443insRY; 2:186646852-186646853	stomach	carcinoma; intestinal_adenocarcinoma	Insertion - In frame
c.1243G>T; p.A415S; 2:186646769-186646769	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2846C>A; p.S949Y; 2:186675845-186675845	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.3104A>G; p.Q1035R; 2:186677249-186677249	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.723G>A; p.R241R; 2:186636173-186636173	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.968T>A; p.V323E; 2:186641397-186641397	pancreas	carcinoma	Substitution - Missense
c.2820+1G>A; p.?; 2:186675718-186675718	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.2702C>T; p.T901I; 2:186669810-186669810	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1293A>C; p.P431P; 2:186646819-186646819	breast	carcinoma	Substitution - coding silent
c.434G>T; p.R145I; 2:186625498-186625498	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.330T>A; p.Y110*; 2:186622352-186622352	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Nonsense
c.1339A>T; p.N447Y; 2:186646865-186646865	skin	malignant_melanoma	Substitution - Missense
c.523C>A; p.Q175K; 2:186625587-186625587	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1822C>T; p.L608F; 2:186659140-186659140	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.394C>G; p.Q132E; 2:186622416-186622416	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2247-9delC; p.?; 2:186667141-186667141	stomach	adenocarcinoma	Unknown
c.2661C>T; p.I887I; 2:186669769-186669769	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - coding silent
c.2429A>G; p.Y810C; 2:186667772-186667772	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2518T>C; p.Y840H; 2:186668846-186668846	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2429A>G; p.Y810C; 2:186667772-186667772	large_intestine; colon	carcinoma	Substitution - Missense
c.2429A>G; p.Y810C; 2:186667772-186667772	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2742_2757del16; p.C914fs*11; 2:186675639-186675654	breast	carcinoma	Deletion - Frameshift
c.878C>T; p.S293F; 2:186638440-186638440	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.28C>T; p.R10C; 2:186590366-186590366	urinary_tract; bladder	carcinoma	Substitution - Missense
c.921A>T; p.G307G; 2:186640932-186640932	breast	carcinoma	Substitution - coding silent
c.757G>T; p.G253C; 2:186636207-186636207	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1649G>A; p.S550N; 2:186656331-186656331	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1199A>C; p.K400T; 2:186646725-186646725	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1494C>G; p.L498L; 2:186652078-186652078	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2674C>T; p.L892F; 2:186669782-186669782	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1615C>T; p.R539*; 2:186656297-186656297	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1615C>T; p.R539*; 2:186656297-186656297	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1615C>T; p.R539*; 2:186656297-186656297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.663C>T; p.I221I; 2:186636113-186636113	skin	malignant_melanoma	Substitution - coding silent
c.201C>G; p.L67L; 2:186602036-186602036	prostate	carcinoma	Substitution - coding silent
c.1389C>G; p.I463M; 2:186649877-186649877	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2729T>G; p.L910W; 2:186675626-186675626	breast	carcinoma	Substitution - Missense
c.1264G>A; p.E422K; 2:186646790-186646790	breast	carcinoma	Substitution - Missense
c.1797T>A; p.A599A; 2:186659115-186659115	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1800T>C; p.D600D; 2:186659118-186659118	liver	carcinoma	Substitution - coding silent
c.1800T>C; p.D600D; 2:186659118-186659118	liver	carcinoma	Substitution - coding silent
c.1643delC; p.P549fs*7; 2:186656325-186656325	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1502C>A; p.S501Y; 2:186652086-186652086	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.582T>C; p.T194T; 2:186630855-186630855	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.582T>C; p.T194T; 2:186630855-186630855	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.75A>G; p.L25L; 2:186590413-186590413	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2395G>A; p.E799K; 2:186667738-186667738	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2124G>T; p.Q708H; 2:186665176-186665176	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>A; p.A415T; 2:186646769-186646769	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1243G>A; p.A415T; 2:186646769-186646769	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.202G>A; p.V68M; 2:186602037-186602037	pancreas	carcinoma	Substitution - Missense
c.2525T>C; p.L842P; 2:186668853-186668853	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1676delG; p.G561fs*2; 2:186656358-186656358	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1676delG; p.G561fs*2; 2:186656358-186656358	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1676delG; p.G561fs*2; 2:186656358-186656358	liver	carcinoma	Deletion - Frameshift
c.1618C>T; p.R540*; 2:186656300-186656300	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1676delG; p.G561fs*2; 2:186656358-186656358	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.2977C>A; p.P993T; 2:186676861-186676861	thyroid	carcinoma	Substitution - Missense
c.1039G>C; p.V347L; 2:186641468-186641468	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.286C>T; p.R96W; 2:186602121-186602121	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.39C>G; p.P13P; 2:186590377-186590377	breast	carcinoma	Substitution - coding silent
c.1548A>G; p.V516V; 2:186654692-186654692	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.2324G>A; p.R775K; 2:186667227-186667227	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2324G>A; p.R775K; 2:186667227-186667227	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.478C>A; p.L160I; 2:186625542-186625542	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2059G>T; p.V687F; 2:186664627-186664627	liver	carcinoma	Substitution - Missense
c.2324G>A; p.R775K; 2:186667227-186667227	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2821-1G>A; p.?; 2:186675819-186675819	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.2324G>A; p.R775K; 2:186667227-186667227	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2324G>A; p.R775K; 2:186667227-186667227	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2324G>A; p.R775K; 2:186667227-186667227	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2324G>A; p.R775K; 2:186667227-186667227	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2324G>A; p.R775K; 2:186667227-186667227	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2059G>T; p.V687F; 2:186664627-186664627	liver	carcinoma	Substitution - Missense
c.2131T>A; p.C711S; 2:186665183-186665183	liver	carcinoma	Substitution - Missense
c.2324G>A; p.R775K; 2:186667227-186667227	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1222_1223GG>AA; p.G408K; 2:186646748-186646749	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1774C>T; p.R592W; 2:186659092-186659092	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.558A>T; p.Q186H; 2:186630831-186630831	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1498_1505+28del36; p.?; 2:186652082-186652117	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.1639A>C; p.R547R; 2:186656321-186656321	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1639A>C; p.R547R; 2:186656321-186656321	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1639A>C; p.R547R; 2:186656321-186656321	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2182C>T; p.R728C; 2:186666719-186666719	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2182C>T; p.R728C; 2:186666719-186666719	skin	malignant_melanoma	Substitution - Missense
c.3045G>A; p.M1015I; 2:186676929-186676929	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2373G>A; p.E791E; 2:186667716-186667716	thyroid	carcinoma	Substitution - coding silent
c.1031A>T; p.Q344L; 2:186641460-186641460	central_nervous_system; brain	atypical_teratoid-rhabdoid_tumour	Substitution - Missense
c.3075G>T; p.R1025R; 2:186677220-186677220	liver	carcinoma	Substitution - coding silent
c.401A>C; p.K134T; 2:186622423-186622423	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.957-2A>T; p.?; 2:186641384-186641384	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.957T>G; p.D319E; 2:186641386-186641386	skin	malignant_melanoma	Substitution - Missense
c.826G>A; p.A276T; 2:186638300-186638300	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.390G>A; p.S130S; 2:186622412-186622412	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.390G>A; p.S130S; 2:186622412-186622412	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2384A>G; p.N795S; 2:186667727-186667727	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.390G>A; p.S130S; 2:186622412-186622412	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1503C>T; p.S501S; 2:186652087-186652087	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2304T>A; p.V768V; 2:186667207-186667207	skin	malignant_melanoma	Substitution - coding silent
c.1626G>T; p.L542L; 2:186656308-186656308	breast	carcinoma	Substitution - coding silent
c.1718G>A; p.R573Q; 2:186656400-186656400	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2398G>T; p.E800*; 2:186667741-186667741	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Nonsense
c.1192G>T; p.D398Y; 2:186646718-186646718	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2795T>C; p.L932S; 2:186675692-186675692	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.206G>A; p.G69E; 2:186602041-186602041	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.67C>A; p.L23I; 2:186590405-186590405	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2223G>A; p.V741V; 2:186666760-186666760	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.67C>A; p.L23I; 2:186590405-186590405	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.67C>A; p.L23I; 2:186590405-186590405	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.67C>A; p.L23I; 2:186590405-186590405	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.67C>A; p.L23I; 2:186590405-186590405	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2090C>T; p.S697F; 2:186665142-186665142	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.67C>A; p.L23I; 2:186590405-186590405	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2223G>A; p.V741V; 2:186666760-186666760	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1224A>T; p.G408G; 2:186646750-186646750	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1016T>C; p.L339P; 2:186641445-186641445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1016T>C; p.L339P; 2:186641445-186641445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1016T>C; p.L339P; 2:186641445-186641445	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.88G>A; p.A30T; 2:186590426-186590426	prostate	carcinoma	Substitution - Missense
c.142T>A; p.Y48N; 2:186590480-186590480	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.574G>C; p.D192H; 2:186630847-186630847	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1990C>G; p.Q664E; 2:186664558-186664558	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.842G>T; p.G281V; 2:186638316-186638316	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1040T>C; p.V347A; 2:186641469-186641469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.454C>T; p.R152*; 2:186625518-186625518	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.946A>C; p.N316H; 2:186640957-186640957	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2821-1G>T; p.?; 2:186675819-186675819	breast	carcinoma	Unknown
c.634C>T; p.Q212*; 2:186636084-186636084	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.3029T>G; p.V1010G; 2:186676913-186676913	thyroid	other; neoplasm	Substitution - Missense
c.1381C>T; p.R461*; 2:186649869-186649869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.2929-9C>T; p.?; 2:186676804-186676804	kidney	other; neoplasm	Unknown
c.1074G>A; p.T358T; 2:186641503-186641503	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1709C>T; p.A570V; 2:186656391-186656391	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1290G>A; p.M430I; 2:186646816-186646816	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2977C>T; p.P993S; 2:186676861-186676861	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.997C>T; p.R333C; 2:186641426-186641426	skin	malignant_melanoma	Substitution - Missense
c.1178C>T; p.P393L; 2:186646704-186646704	skin	malignant_melanoma	Substitution - Missense
c.874T>A; p.S292T; 2:186638436-186638436	pancreas	carcinoma	Substitution - Missense
c.3053T>C; p.M1018T; 2:186677198-186677198	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.874T>A; p.S292T; 2:186638436-186638436	pancreas	carcinoma	Substitution - Missense
c.692G>A; p.S231N; 2:186636142-186636142	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.2153A>G; p.K718R; 2:186665205-186665205	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1183delG; p.G396fs*18; 2:186646709-186646709	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2408G>T; p.G803V; 2:186667751-186667751	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.559delG; p.G187fs*52; 2:186630832-186630832	stomach	carcinoma; diffuse_adenocarcinoma	Deletion - Frameshift
c.1601A>G; p.Q534R; 2:186656283-186656283	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.1083G>T; p.L361L; 2:186641512-186641512	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.787G>A; p.G263S; 2:186637094-186637094	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.787G>A; p.G263S; 2:186637094-186637094	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3077C>T; p.P1026L; 2:186677222-186677222	skin	malignant_melanoma	Substitution - Missense
c.1882G>A; p.E628K; 2:186663792-186663792	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.746A>G; p.D249G; 2:186636196-186636196	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2281T>C; p.S761P; 2:186667184-186667184	breast	carcinoma	Substitution - Missense
c.1926-7C>A; p.?; 2:186664487-186664487	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1565-2A>T; p.?; 2:186656245-186656245	breast	carcinoma	Unknown
c.1039G>A; p.V347M; 2:186641468-186641468	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1040T>A; p.V347E; 2:186641469-186641469	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.233C>A; p.P78H; 2:186602068-186602068	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2333C>G; p.S778W; 2:186667676-186667676	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2784C>A; p.Y928*; 2:186675681-186675681	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.812C>A; p.S271*; 2:186638286-186638286	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.298A>T; p.I100F; 2:186602133-186602133	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1675_1676insG; p.L562fs*5; 2:186656357-186656358	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.1675_1676insG; p.L562fs*5; 2:186656357-186656358	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2241C>T; p.I747I; 2:186666778-186666778	skin	malignant_melanoma	Substitution - coding silent
c.3101delA; p.E1034fs*>15; 2:186677246-186677246	NS	malignant_melanoma	Deletion - Frameshift
c.1397+1G>A; p.?; 2:186649886-186649886	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.3101delA; p.E1034fs*>15; 2:186677246-186677246	NS	malignant_melanoma	Deletion - Frameshift

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]