lung cancer gene and literature database Home

Annotation category 5

Basic annotation
Ontology and pathways
Literature evidence
Curated literatures
Expression
Gene expression chart
Somatic mutation
COSMIC and TCGA mutations
Network
Gene interaction
ceRNA
Gene-related ceRNA

Gene information

Gene ID	3685
Symbol	ITGAV
Synonymous	CD51\|MSK8\|VNRA\|VTNR
Full name	integrin, alpha V
Gene description	antigen identified by monoclonal antibody L230\|integrin alpha-V\|integrin alphaVbeta3\|integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)\|vitronectin receptor subunit alpha
Cytoband	2q31-q32
Gene type	protein-coding
Synonymous	MIM:193210; HGNC:HGNC:6150; Ensembl:ENSG00000138448; HPRD:01903; Vega:OTTHUMG00000132635

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
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

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation