Entrez Gene

Basic Information
Gene ID	3676
Name	ITGA4
Synonymous	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor);ITGA4;integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)
Definition	269C wild type\|CD49 antigen-like family member D\|VLA-4 subunit alpha\|antigen CD49D, alpha-4 subunit of VLA-4 receptor\|integrin alpha 4\|integrin alpha-4\|integrin alpha-4 subunit\|integrin alpha-IV\|very late activation protein 4 receptor, alpha 4 subunit
Position	2q31.3
Gene Type	protein-coding

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.1708G>T; p.D570Y; 2:181509670-181509670	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1154-1G>T; p.?; 2:181493324-181493324	lung	carcinoma; adenocarcinoma	Unknown
c.1616G>A; p.G539E; 2:181498698-181498698	skin	malignant_melanoma	Substitution - Missense
c.2722G>A; p.E908K; 2:181531714-181531714	skin	malignant_melanoma	Substitution - Missense
c.1897G>A; p.V633I; 2:181511750-181511750	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.32C>T; p.P11L; 2:181457686-181457686	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.32C>T; p.P11L; 2:181457686-181457686	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2081A>G; p.K694R; 2:181523444-181523444	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2191G>A; p.D731N; 2:181524192-181524192	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1566T>A; p.D522E; 2:181498648-181498648	skin	malignant_melanoma	Substitution - Missense
c.1153G>A; p.D385N; 2:181485992-181485992	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1506C>A; p.F502L; 2:181495903-181495903	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.50G>A; p.R17Q; 2:181457704-181457704	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1737T>C; p.A579A; 2:181509699-181509699	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2887C>T; p.L963L; 2:181534819-181534819	skin	malignant_melanoma	Substitution - coding silent
c.1510T>C; p.Y504H; 2:181495907-181495907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1510T>C; p.Y504H; 2:181495907-181495907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1510T>C; p.Y504H; 2:181495907-181495907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1510T>C; p.Y504H; 2:181495907-181495907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1510T>C; p.Y504H; 2:181495907-181495907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1510T>C; p.Y504H; 2:181495907-181495907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1510T>C; p.Y504H; 2:181495907-181495907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1510T>C; p.Y504H; 2:181495907-181495907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1510T>C; p.Y504H; 2:181495907-181495907	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1013G>C; p.R338T; 2:181482623-181482623	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1745A>C; p.H582P; 2:181509707-181509707	breast	carcinoma	Substitution - Missense
c.1419A>G; p.L473L; 2:181495816-181495816	skin	malignant_melanoma	Substitution - coding silent
c.1292G>T; p.G431V; 2:181494765-181494765	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1949C>A; p.A650D; 2:181522217-181522217	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.891G>A; p.M297I; 2:181482410-181482410	skin	malignant_melanoma	Substitution - Missense
c.891G>A; p.M297I; 2:181482410-181482410	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1472G>T; p.W491L; 2:181495869-181495869	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.554A>C; p.Q185P; 2:181475286-181475286	skin	malignant_melanoma	Substitution - Missense
c.1360C>T; p.R454W; 2:181495391-181495391	skin	malignant_melanoma	Substitution - Missense
c.197G>A; p.W66*; 2:181457851-181457851	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.43G>A; p.A15T; 2:181457697-181457697	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1523A>C; p.E508A; 2:181495920-181495920	skin	malignant_melanoma	Substitution - Missense
c.1540G>T; p.V514F; 2:181495937-181495937	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2942T>C; p.I981T; 2:181534874-181534874	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2170A>G; p.I724V; 2:181524171-181524171	salivary_gland; parotid	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.156C>T; p.F52F; 2:181457810-181457810	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1372G>C; p.A458P; 2:181495403-181495403	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.679G>A; p.V227I; 2:181480191-181480191	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1087A>G; p.K363E; 2:181485926-181485926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2158C>T; p.H720Y; 2:181523521-181523521	skin	malignant_melanoma	Substitution - Missense
c.1091A>G; p.Y364C; 2:181485930-181485930	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.643G>T; p.A215S; 2:181480155-181480155	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2501C>A; p.P834H; 2:181529611-181529611	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.466A>G; p.N156D; 2:181475198-181475198	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.466A>G; p.N156D; 2:181475198-181475198	liver	carcinoma	Substitution - Missense
c.1013G>T; p.R338I; 2:181482623-181482623	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.3003+4A>C; p.?; 2:181534939-181534939	stomach	carcinoma; diffuse_adenocarcinoma	Unknown
c.2802C>T; p.L934L; 2:181534289-181534289	breast	carcinoma	Substitution - coding silent
c.1569G>A; p.V523V; 2:181498651-181498651	skin	malignant_melanoma	Substitution - coding silent
c.2018C>T; p.T673M; 2:181522286-181522286	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1771C>T; p.R591*; 2:181509733-181509733	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2018C>T; p.T673M; 2:181522286-181522286	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2018C>T; p.T673M; 2:181522286-181522286	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1772G>A; p.R591Q; 2:181509734-181509734	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1529C>T; p.P510L; 2:181495926-181495926	skin	malignant_melanoma	Substitution - Missense
c.15G>A; p.A5A; 2:181457669-181457669	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1846-3C>A; p.?; 2:181511696-181511696	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.574G>A; p.G192R; 2:181478774-181478774	skin	malignant_melanoma	Substitution - Missense
c.2353A>G; p.T785A; 2:181527310-181527310	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1780G>T; p.E594*; 2:181509742-181509742	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2353A>G; p.T785A; 2:181527310-181527310	liver	carcinoma	Substitution - Missense
c.1412C>A; p.A471D; 2:181495809-181495809	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1129G>A; p.D377N; 2:181485968-181485968	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.122C>T; p.A41V; 2:181457776-181457776	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.122C>T; p.A41V; 2:181457776-181457776	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.26C>A; p.P9H; 2:181457680-181457680	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2880G>C; p.A960A; 2:181534367-181534367	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.873A>G; p.L291L; 2:181482392-181482392	liver	carcinoma	Substitution - coding silent
c.2170-3C>A; p.?; 2:181524168-181524168	liver	carcinoma	Unknown
c.2170-3C>A; p.?; 2:181524168-181524168	liver	carcinoma	Unknown
c.325C>T; p.P109S; 2:181474965-181474965	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1410C>T; p.D470D; 2:181495807-181495807	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1410C>T; p.D470D; 2:181495807-181495807	pancreas	carcinoma	Substitution - coding silent
c.2433T>C; p.V811V; 2:181529543-181529543	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.528G>T; p.L176L; 2:181475260-181475260	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2492C>A; p.S831Y; 2:181529602-181529602	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2415G>A; p.M805I; 2:181527372-181527372	skin	malignant_melanoma	Substitution - Missense
c.2492C>A; p.S831Y; 2:181529602-181529602	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2492C>A; p.S831Y; 2:181529602-181529602	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2492C>A; p.S831Y; 2:181529602-181529602	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1536C>T; p.Y512Y; 2:181495933-181495933	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1480G>C; p.V494L; 2:181495877-181495877	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.42C>T; p.A14A; 2:181457696-181457696	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2515C>T; p.L839L; 2:181529625-181529625	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1292G>A; p.G431E; 2:181494765-181494765	urinary_tract; bladder	carcinoma	Substitution - Missense
c.241T>G; p.S81A; 2:181458239-181458239	skin	malignant_melanoma	Substitution - Missense
c.2700C>T; p.F900F; 2:181531692-181531692	skin	malignant_melanoma	Substitution - coding silent
c.781C>T; p.R261W; 2:181481624-181481624	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2746C>T; p.H916Y; 2:181531738-181531738	skin	malignant_melanoma	Substitution - Missense
c.2700C>T; p.F900F; 2:181531692-181531692	skin	malignant_melanoma	Substitution - coding silent
c.2829T>C; p.F943F; 2:181534316-181534316	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2869G>A; p.E957K; 2:181534356-181534356	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.648A>T; p.P216P; 2:181480160-181480160	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.395C>T; p.S132F; 2:181475035-181475035	skin	malignant_melanoma	Substitution - Missense
c.2335C>T; p.H779Y; 2:181525287-181525287	skin	malignant_melanoma	Substitution - Missense
c.1468G>T; p.G490*; 2:181495865-181495865	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.901A>T; p.K301*; 2:181482420-181482420	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2173G>C; p.D725H; 2:181524174-181524174	liver	carcinoma	Substitution - Missense
c.2173G>C; p.D725H; 2:181524174-181524174	liver	carcinoma	Substitution - Missense
c.1248+1G>C; p.?; 2:181493420-181493420	liver	carcinoma	Unknown
c.2707A>G; p.N903D; 2:181531699-181531699	central_nervous_system; brain	glioma	Substitution - Missense
c.1873G>A; p.E625K; 2:181511726-181511726	skin	malignant_melanoma	Substitution - Missense
c.1315G>A; p.D439N; 2:181494788-181494788	urinary_tract; bladder	carcinoma	Substitution - Missense
c.837T>G; p.G279G; 2:181481680-181481680	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.837T>G; p.G279G; 2:181481680-181481680	breast	carcinoma; ductal_carcinoma	Substitution - coding silent
c.799G>A; p.E267K; 2:181481642-181481642	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2846G>A; p.R949K; 2:181534333-181534333	pancreas	carcinoma	Substitution - Missense
c.799G>A; p.E267K; 2:181481642-181481642	central_nervous_system; brain	glioma	Substitution - Missense
c.1021G>T; p.V341L; 2:181482631-181482631	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.731A>T; p.Q244L; 2:181480243-181480243	liver	carcinoma	Substitution - Missense
c.2916C>G; p.P972P; 2:181534848-181534848	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2837C>A; p.P946Q; 2:181534324-181534324	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.731A>T; p.Q244L; 2:181480243-181480243	liver	carcinoma	Substitution - Missense
c.984C>G; p.P328P; 2:181482594-181482594	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1205T>G; p.I402S; 2:181493376-181493376	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1089A>G; p.K363K; 2:181485928-181485928	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.430T>G; p.C144G; 2:181475162-181475162	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1413T>A; p.A471A; 2:181495810-181495810	pancreas	carcinoma	Substitution - coding silent
c.1079G>A; p.G360E; 2:181485918-181485918	skin	malignant_melanoma	Substitution - Missense
c.1376T>A; p.V459D; 2:181495407-181495407	breast	carcinoma	Substitution - Missense
c.711delT; p.L239fs*1; 2:181480223-181480223	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1422C>A; p.S474R; 2:181495819-181495819	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1640G>A; p.S547N; 2:181498722-181498722	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2876T>C; p.V959A; 2:181534363-181534363	skin	malignant_melanoma	Substitution - Missense
c.480C>T; p.L160L; 2:181475212-181475212	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1277C>T; p.S426L; 2:181494750-181494750	skin	malignant_melanoma	Substitution - Missense
c.1277C>T; p.S426L; 2:181494750-181494750	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2492C>T; p.S831F; 2:181529602-181529602	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1277C>T; p.S426L; 2:181494750-181494750	skin	malignant_melanoma	Substitution - Missense
c.1277C>T; p.S426L; 2:181494750-181494750	skin	malignant_melanoma	Substitution - Missense
c.1277C>T; p.S426L; 2:181494750-181494750	skin	malignant_melanoma	Substitution - Missense
c.2348A>G; p.N783S; 2:181527305-181527305	skin	malignant_melanoma	Substitution - Missense
c.1528C>T; p.P510S; 2:181495925-181495925	skin	malignant_melanoma	Substitution - Missense
c.2376T>C; p.N792N; 2:181527333-181527333	bone; tibia	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - coding silent
c.1818G>C; p.K606N; 2:181509780-181509780	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.2015_2017delAAA; p.E672_T673>A; 2:181522283-181522285	NS	malignant_melanoma	Complex - deletion inframe
c.1818G>C; p.K606N; 2:181509780-181509780	urinary_tract; bladder	carcinoma	Substitution - Missense
c.87G>A; p.P29P; 2:181457741-181457741	skin	malignant_melanoma	Substitution - coding silent
c.2015_2017delAAA; p.E672_T673>A; 2:181522283-181522285	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Complex - deletion inframe
c.1457G>C; p.C486S; 2:181495854-181495854	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2507C>T; p.T836I; 2:181529617-181529617	skin	malignant_melanoma	Substitution - Missense
c.798C>T; p.T266T; 2:181481641-181481641	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.817_818CC>AA; p.P273N; 2:181481660-181481661	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.973G>A; p.V325M; 2:181482583-181482583	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2514G>A; p.K838K; 2:181529624-181529624	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.528G>A; p.L176L; 2:181475260-181475260	skin	malignant_melanoma	Substitution - coding silent
c.260C>T; p.A87V; 2:181458258-181458258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1470A>G; p.G490G; 2:181495867-181495867	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1807C>T; p.L603F; 2:181509769-181509769	breast	carcinoma	Substitution - Missense
c.629T>C; p.L210S; 2:181480141-181480141	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2753A>G; p.Q918R; 2:181531745-181531745	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.465G>A; p.K155K; 2:181475197-181475197	breast	carcinoma	Substitution - coding silent
c.90C>T; p.T30T; 2:181457744-181457744	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2066T>C; p.L689S; 2:181522334-181522334	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2683C>T; p.P895S; 2:181531675-181531675	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2159A>G; p.H720R; 2:181523522-181523522	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1589C>T; p.P530L; 2:181498671-181498671	skin	malignant_melanoma	Substitution - Missense
c.425T>A; p.V142E; 2:181475065-181475065	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1854T>C; p.F618F; 2:181511707-181511707	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.1626C>T; p.D542D; 2:181498708-181498708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1626C>T; p.D542D; 2:181498708-181498708	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1626C>T; p.D542D; 2:181498708-181498708	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1925C>A; p.P642H; 2:181522193-181522193	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.553C>G; p.Q185E; 2:181475285-181475285	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1839A>T; p.K613N; 2:181509801-181509801	liver	carcinoma	Substitution - Missense
c.1006G>T; p.E336*; 2:181482616-181482616	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.181C>A; p.H61N; 2:181457835-181457835	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2883+1G>A; p.?; 2:181534371-181534371	stomach	carcinoma; adenocarcinoma	Unknown
c.409G>A; p.E137K; 2:181475049-181475049	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1629G>C; p.V543V; 2:181498711-181498711	breast	carcinoma	Substitution - coding silent
c.450T>C; p.N150N; 2:181475182-181475182	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2837C>T; p.P946L; 2:181534324-181534324	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1628T>C; p.V543A; 2:181498710-181498710	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2659C>T; p.L887L; 2:181530644-181530644	endometrium	carcinoma; serous_carcinoma	Substitution - coding silent
c.2069A>G; p.E690G; 2:181522337-181522337	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.14C>T; p.A5V; 2:181457668-181457668	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.708G>T; p.K236N; 2:181480220-181480220	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.911C>T; p.S304L; 2:181482521-181482521	skin	malignant_melanoma	Substitution - Missense
c.91G>A; p.G31S; 2:181457745-181457745	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.513T>C; p.D171D; 2:181475245-181475245	liver	carcinoma	Substitution - coding silent
c.2766G>A; p.R922R; 2:181531758-181531758	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.624+1G>A; p.?; 2:181478825-181478825	oesophagus	carcinoma; squamous_cell_carcinoma	Unknown
c.742G>T; p.G248*; 2:181480254-181480254	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1826A>C; p.K609T; 2:181509788-181509788	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1225G>A; p.G409R; 2:181493396-181493396	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2214G>C; p.A738A; 2:181524215-181524215	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1826A>C; p.K609T; 2:181509788-181509788	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1541-3C>T; p.?; 2:181498620-181498620	pancreas	carcinoma	Unknown
c.45C>T; p.A15A; 2:181457699-181457699	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1915T>C; p.F639L; 2:181511768-181511768	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1441A>G; p.R481G; 2:181495838-181495838	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2539-1G>A; p.?; 2:181530523-181530523	skin	malignant_melanoma	Unknown
c.556G>A; p.D186N; 2:181475288-181475288	skin	malignant_melanoma	Substitution - Missense
c.1615G>A; p.G539R; 2:181498697-181498697	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1089A>T; p.K363N; 2:181485928-181485928	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.303C>T; p.C101C; 2:181458301-181458301	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.303C>T; p.C101C; 2:181458301-181458301	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1042-1G>A; p.?; 2:181485880-181485880	stomach	carcinoma; adenocarcinoma	Unknown
c.1536C>G; p.Y512*; 2:181495933-181495933	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1522G>A; p.E508K; 2:181495919-181495919	skin	malignant_melanoma	Substitution - Missense
c.346A>G; p.K116E; 2:181474986-181474986	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1719C>T; p.T573T; 2:181509681-181509681	skin	malignant_melanoma	Substitution - coding silent
c.859G>A; p.D287N; 2:181482378-181482378	urinary_tract; bladder	carcinoma	Substitution - Missense
c.949G>T; p.A317S; 2:181482559-181482559	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1653C>T; p.S551S; 2:181498735-181498735	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1974G>A; p.M658I; 2:181522242-181522242	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.859G>A; p.D287N; 2:181482378-181482378	skin	malignant_melanoma	Substitution - Missense
c.867A>G; p.K289K; 2:181482386-181482386	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.650G>A; p.G217E; 2:181480162-181480162	skin	malignant_melanoma	Substitution - Missense
c.1518C>T; p.G506G; 2:181495915-181495915	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.934G>T; p.A312S; 2:181482544-181482544	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1954G>T; p.G652W; 2:181522222-181522222	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1518C>T; p.G506G; 2:181495915-181495915	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.1489G>A; p.D497N; 2:181495886-181495886	skin	malignant_melanoma	Substitution - Missense
c.2897G>A; p.G966E; 2:181534829-181534829	skin	malignant_melanoma	Substitution - Missense
c.299C>T; p.T100M; 2:181458297-181458297	pancreas	carcinoma	Substitution - Missense
c.3012C>A; p.F1004L; 2:181535440-181535440	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1412C>T; p.A471V; 2:181495809-181495809	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2700C>A; p.F900L; 2:181531692-181531692	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.645C>T; p.A215A; 2:181480157-181480157	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2700C>A; p.F900L; 2:181531692-181531692	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1836G>A; p.M612I; 2:181509798-181509798	skin	malignant_melanoma	Substitution - Missense
c.1705C>T; p.R569W; 2:181509667-181509667	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1836G>A; p.M612I; 2:181509798-181509798	skin	malignant_melanoma	Substitution - Missense
c.2777T>C; p.L926S; 2:181531769-181531769	oesophagus	carcinoma	Substitution - Missense
c.1836G>A; p.M612I; 2:181509798-181509798	skin	malignant_melanoma	Substitution - Missense
c.1928delA; p.H643fs*12; 2:181522196-181522196	central_nervous_system; brain	glioma	Deletion - Frameshift
c.1928delA; p.H643fs*12; 2:181522196-181522196	lung	carcinoma; large_cell_carcinoma	Deletion - Frameshift
c.1924C>A; p.P642T; 2:181522192-181522192	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1442G>A; p.R481K; 2:181495839-181495839	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2880G>A; p.A960A; 2:181534367-181534367	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1837delA; p.T615fs*2; 2:181509799-181509799	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1836_1837insA; p.T615fs*11; 2:181509798-181509799	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.213G>A; p.A71A; 2:181458211-181458211	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1836_1837insA; p.T615fs*11; 2:181509798-181509799	large_intestine; colon	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2214G>A; p.A738A; 2:181524215-181524215	liver	carcinoma	Substitution - coding silent
c.2214G>A; p.A738A; 2:181524215-181524215	liver	carcinoma	Substitution - coding silent
c.197G>T; p.W66L; 2:181457851-181457851	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1634C>A; p.T545K; 2:181498716-181498716	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.44C>T; p.A15V; 2:181457698-181457698	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.571T>A; p.F191I; 2:181478771-181478771	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2147T>G; p.I716R; 2:181523510-181523510	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.513T>A; p.D171E; 2:181475245-181475245	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2020A>G; p.T674A; 2:181522288-181522288	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1579G>A; p.A527T; 2:181498661-181498661	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.573T>C; p.F191F; 2:181478773-181478773	liver	carcinoma	Substitution - coding silent
c.2589A>T; p.L863F; 2:181530574-181530574	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2409G>A; p.E803E; 2:181527366-181527366	skin	malignant_melanoma	Substitution - coding silent
c.1475C>A; p.P492H; 2:181495872-181495872	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1351G>C; p.G451R; 2:181495382-181495382	urinary_tract; bladder	carcinoma	Substitution - Missense
c.149C>T; p.T50M; 2:181457803-181457803	large_intestine; colon	carcinoma	Substitution - Missense
c.188C>T; p.A63V; 2:181457842-181457842	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1044A>G; p.G348G; 2:181485883-181485883	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.215C>T; p.P72L; 2:181458213-181458213	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.518G>A; p.R173Q; 2:181475250-181475250	skin	malignant_melanoma	Substitution - Missense
c.2473G>A; p.E825K; 2:181529583-181529583	skin	malignant_melanoma	Substitution - Missense
c.1941A>G; p.T647T; 2:181522209-181522209	liver	carcinoma	Substitution - coding silent
c.1941A>G; p.T647T; 2:181522209-181522209	liver	carcinoma	Substitution - coding silent
c.1446G>A; p.T482T; 2:181495843-181495843	skin	malignant_melanoma	Substitution - coding silent
c.1446G>A; p.T482T; 2:181495843-181495843	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1446G>A; p.T482T; 2:181495843-181495843	skin	malignant_melanoma	Substitution - coding silent
c.158G>T; p.G53V; 2:181457812-181457812	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1877_1878insA; p.N626fs*5; 2:181511730-181511731	pancreas	NS	Insertion - Frameshift
c.918T>C; p.F306F; 2:181482528-181482528	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2533G>T; p.V845F; 2:181529643-181529643	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1934A>G; p.N645S; 2:181522202-181522202	breast	carcinoma	Substitution - Missense
c.421A>G; p.I141V; 2:181475061-181475061	breast	carcinoma	Substitution - Missense
c.2249+2T>A; p.?; 2:181524252-181524252	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2269G>C; p.D757H; 2:181525221-181525221	pancreas	carcinoma	Substitution - Missense
c.754G>T; p.G252*; 2:181480266-181480266	lung	carcinoma; small_cell_carcinoma	Substitution - Nonsense
c.1658G>C; p.R553T; 2:181498740-181498740	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1283G>C; p.S428T; 2:181494756-181494756	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.346A>T; p.K116*; 2:181474986-181474986	skin	malignant_melanoma	Substitution - Nonsense
c.1355C>T; p.A452V; 2:181495386-181495386	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.307C>A; p.Q103K; 2:181458305-181458305	breast	carcinoma	Substitution - Missense
c.1233G>A; p.S411S; 2:181493404-181493404	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - coding silent
c.237C>G; p.N79K; 2:181458235-181458235	stomach	adenocarcinoma	Substitution - Missense
c.1013G>A; p.R338K; 2:181482623-181482623	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2407G>T; p.E803*; 2:181527364-181527364	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1627G>A; p.V543M; 2:181498709-181498709	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1242C>T; p.F414F; 2:181493413-181493413	skin	malignant_melanoma	Substitution - coding silent
c.348G>T; p.K116N; 2:181474988-181474988	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1369T>C; p.S457P; 2:181495400-181495400	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1760T>C; p.V587A; 2:181509722-181509722	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1812G>T; p.Q604H; 2:181509774-181509774	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.485C>T; p.T162I; 2:181475217-181475217	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2377G>A; p.D793N; 2:181527334-181527334	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.95G>A; p.R32H; 2:181457749-181457749	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1803A>C; p.P601P; 2:181509765-181509765	breast	carcinoma	Substitution - coding silent
c.1211A>G; p.N404S; 2:181493382-181493382	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1693C>T; p.R565W; 2:181498775-181498775	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.1693C>T; p.R565W; 2:181498775-181498775	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.297G>C; p.Q99H; 2:181458295-181458295	cervix	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1564G>A; p.D522N; 2:181498646-181498646	skin	malignant_melanoma	Substitution - Missense
c.1217G>T; p.R406L; 2:181493388-181493388	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1445C>T; p.T482M; 2:181495842-181495842	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2785G>A; p.D929N; 2:181534272-181534272	skin	malignant_melanoma	Substitution - Missense
c.2372C>T; p.S791L; 2:181527329-181527329	skin	malignant_melanoma	Substitution - Missense

COSMIC somatic mutation [Top]