Entrez Gene

Basic Information
Gene ID	1601
Name	DAB2
Synonymous	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila);DAB2;Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)
Definition	adaptor molecule disabled-2\|differentially expressed in ovarian carcinoma 2\|differentially-expressed protein 2\|disabled homolog 2\|disabled homolog 2, mitogen-responsive phosphoprotein
Position	5p13.1
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

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

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.12.

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.1760_1762delCAA; p.T587delT; 5:39377025-39377027	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.1587G>A; p.P529P; 5:39377200-39377200	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1639G>A; p.G547S; 5:39377148-39377148	breast	carcinoma	Substitution - Missense
c.231+2T>C; p.?; 5:39393252-39393252	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.16G>T; p.E6*; 5:39394305-39394305	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1957G>T; p.E653*; 5:39376830-39376830	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.929C>T; p.S310L; 5:39383030-39383030	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.623C>T; p.S208L; 5:39388800-39388800	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.623C>T; p.S208L; 5:39388800-39388800	breast	carcinoma	Substitution - Missense
c.929C>T; p.S310L; 5:39383030-39383030	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.413G>A; p.C138Y; 5:39390493-39390493	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2209C>T; p.P737S; 5:39376035-39376035	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1546A>G; p.T516A; 5:39377241-39377241	breast	carcinoma	Substitution - Missense
c.702C>T; p.I234I; 5:39383257-39383257	skin	malignant_melanoma	Substitution - coding silent
c.1638delT; p.F546fs*95; 5:39377149-39377149	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1748C>T; p.A583V; 5:39377039-39377039	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1208C>T; p.P403L; 5:39382751-39382751	skin; scalp	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2313A>C; p.*771Y; 5:39375019-39375019	large_intestine; colon	carcinoma; adenocarcinoma	Nonstop extension
c.2255C>T; p.S752F; 5:39375077-39375077	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.990G>A; p.P330P; 5:39382969-39382969	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1405C>T; p.Q469*; 5:39381553-39381553	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.129C>T; p.F43F; 5:39393356-39393356	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.350C>T; p.P117L; 5:39390556-39390556	skin	malignant_melanoma	Substitution - Missense
c.330G>A; p.G110G; 5:39392365-39392365	liver	carcinoma	Substitution - coding silent
c.1729G>A; p.A577T; 5:39377058-39377058	breast	carcinoma	Substitution - Missense
c.330G>A; p.G110G; 5:39392365-39392365	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.807G>A; p.T269T; 5:39383152-39383152	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.77A>T; p.K26M; 5:39394244-39394244	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1723C>T; p.P575S; 5:39377064-39377064	skin	malignant_melanoma	Substitution - Missense
c.697G>C; p.D233H; 5:39383262-39383262	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1877C>A; p.A626D; 5:39376910-39376910	liver	carcinoma	Substitution - Missense
c.1877C>A; p.A626D; 5:39376910-39376910	liver	carcinoma	Substitution - Missense
c.1797T>C; p.F599F; 5:39376990-39376990	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.12A>G; p.E4E; 5:39394309-39394309	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.2311T>A; p.*771K; 5:39375021-39375021	liver	carcinoma	Nonstop extension
c.2311T>A; p.*771K; 5:39375021-39375021	liver	carcinoma	Nonstop extension
c.1808C>T; p.A603V; 5:39376979-39376979	liver	carcinoma	Substitution - Missense
c.1808C>T; p.A603V; 5:39376979-39376979	liver	carcinoma	Substitution - Missense
c.1573C>T; p.P525S; 5:39377214-39377214	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1418C>A; p.T473K; 5:39381540-39381540	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.64G>A; p.A22T; 5:39394257-39394257	skin	malignant_melanoma	Substitution - Missense
c.1270C>T; p.P424S; 5:39382689-39382689	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2173C>T; p.P725S; 5:39376071-39376071	skin; trunk	malignant_melanoma	Substitution - Missense
c.688G>A; p.E230K; 5:39383271-39383271	skin; ear	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1890G>T; p.K630N; 5:39376897-39376897	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1632C>T; p.V544V; 5:39377155-39377155	skin	malignant_melanoma	Substitution - coding silent
c.1626G>A; p.Q542Q; 5:39377161-39377161	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1433C>T; p.A478V; 5:39381525-39381525	skin	malignant_melanoma	Substitution - Missense
c.1558G>A; p.V520I; 5:39377229-39377229	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2170C>A; p.L724M; 5:39376074-39376074	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1028T>C; p.F343S; 5:39382931-39382931	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.885C>A; p.F295L; 5:39383074-39383074	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2048C>T; p.A683V; 5:39376739-39376739	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1028T>C; p.F343S; 5:39382931-39382931	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.136G>T; p.D46Y; 5:39393349-39393349	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1401A>T; p.S467S; 5:39381557-39381557	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1072G>C; p.E358Q; 5:39382887-39382887	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1756A>G; p.T586A; 5:39377031-39377031	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2124G>A; p.L708L; 5:39376663-39376663	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2205G>T; p.E735D; 5:39376039-39376039	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1884T>A; p.P628P; 5:39376903-39376903	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.754G>C; p.E252Q; 5:39383205-39383205	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.5C>T; p.S2F; 5:39394316-39394316	breast	carcinoma	Substitution - Missense
c.1025A>T; p.Y342F; 5:39382934-39382934	skin	malignant_melanoma	Substitution - Missense
c.363T>C; p.I121I; 5:39390543-39390543	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.1385C>T; p.P462L; 5:39381573-39381573	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1354G>A; p.D452N; 5:39381604-39381604	skin	malignant_melanoma	Substitution - Missense
c.2093A>G; p.D698G; 5:39376694-39376694	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.10G>T; p.E4*; 5:39394311-39394311	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1031_1032delGT; p.G344fs*4; 5:39382927-39382928	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Deletion - Frameshift
c.1630G>A; p.V544I; 5:39377157-39377157	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1146T>C; p.S382S; 5:39382813-39382813	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1443C>G; p.P481P; 5:39381515-39381515	skin	malignant_melanoma	Substitution - coding silent
c.1146T>C; p.S382S; 5:39382813-39382813	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1146T>C; p.S382S; 5:39382813-39382813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.451A>T; p.T151S; 5:39390455-39390455	skin	malignant_melanoma	Substitution - Missense
c.1146T>C; p.S382S; 5:39382813-39382813	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.938C>T; p.S313F; 5:39383021-39383021	skin	malignant_melanoma	Substitution - Missense
c.136G>A; p.D46N; 5:39393349-39393349	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.1918T>C; p.L640L; 5:39376869-39376869	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.971C>A; p.S324*; 5:39382988-39382988	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.430C>T; p.H144Y; 5:39390476-39390476	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.933T>A; p.F311L; 5:39383026-39383026	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.397G>T; p.A133S; 5:39390509-39390509	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.397G>T; p.A133S; 5:39390509-39390509	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.397G>T; p.A133S; 5:39390509-39390509	large_intestine; colon	carcinoma	Substitution - Missense
c.397G>T; p.A133S; 5:39390509-39390509	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1107G>A; p.S369S; 5:39382852-39382852	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_leukaemia	Substitution - coding silent
c.2042C>T; p.A681V; 5:39376745-39376745	ovary	other; neoplasm	Substitution - Missense
c.1153G>A; p.E385K; 5:39382806-39382806	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.730G>A; p.D244N; 5:39383229-39383229	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.730G>A; p.D244N; 5:39383229-39383229	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.730G>A; p.D244N; 5:39383229-39383229	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.393C>T; p.N131N; 5:39390513-39390513	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2006G>A; p.R669Q; 5:39376781-39376781	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.408C>T; p.Y136Y; 5:39390498-39390498	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.796C>T; p.P266S; 5:39383163-39383163	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.796C>T; p.P266S; 5:39383163-39383163	skin	malignant_melanoma	Substitution - Missense
c.1856C>T; p.P619L; 5:39376931-39376931	skin	malignant_melanoma	Substitution - Missense
c.1567C>A; p.Q523K; 5:39377220-39377220	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1567C>A; p.Q523K; 5:39377220-39377220	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1694C>T; p.T565I; 5:39377093-39377093	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.1150A>G; p.R384G; 5:39382809-39382809	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2148G>T; p.K716N; 5:39376096-39376096	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.854A>C; p.N285T; 5:39383105-39383105	central_nervous_system; brain	glioma	Substitution - Missense
c.1227G>A; p.Q409Q; 5:39382732-39382732	skin	malignant_melanoma	Substitution - coding silent
c.861T>C; p.F287F; 5:39383098-39383098	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.811C>T; p.Q271*; 5:39383148-39383148	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.1293C>T; p.I431I; 5:39382666-39382666	skin	malignant_melanoma	Substitution - coding silent
c.984T>C; p.S328S; 5:39382975-39382975	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.395G>A; p.R132Q; 5:39390511-39390511	prostate	carcinoma	Substitution - Missense
c.1839C>T; p.S613S; 5:39376948-39376948	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.865A>T; p.T289S; 5:39383094-39383094	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1334C>T; p.T445I; 5:39382625-39382625	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1832T>C; p.M611T; 5:39376955-39376955	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1589G>A; p.G530E; 5:39377198-39377198	skin	malignant_melanoma	Substitution - Missense
c.1589G>A; p.G530E; 5:39377198-39377198	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.651G>A; p.G217G; 5:39388341-39388341	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1185G>A; p.P395P; 5:39382774-39382774	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1185G>A; p.P395P; 5:39382774-39382774	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2277G>C; p.E759D; 5:39375055-39375055	breast	carcinoma	Substitution - Missense
c.443C>T; p.A148V; 5:39390463-39390463	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.39G>C; p.Q13H; 5:39394282-39394282	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.147A>C; p.K49N; 5:39393338-39393338	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1901G>A; p.S634N; 5:39376886-39376886	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1901G>A; p.S634N; 5:39376886-39376886	thyroid	other; neoplasm	Substitution - Missense
c.1751G>T; p.W584L; 5:39377036-39377036	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1886C>T; p.P629L; 5:39376901-39376901	skin	malignant_melanoma	Substitution - Missense
c.1471G>T; p.A491S; 5:39381487-39381487	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.86delA; p.K29fs*12; 5:39394235-39394235	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.86delA; p.K29fs*12; 5:39394235-39394235	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.86delA; p.K29fs*12; 5:39394235-39394235	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.86delA; p.K29fs*12; 5:39394235-39394235	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1886C>T; p.P629L; 5:39376901-39376901	skin	malignant_melanoma	Substitution - Missense
c.729C>T; p.I243I; 5:39383230-39383230	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1599G>A; p.M533I; 5:39377188-39377188	skin	malignant_melanoma	Substitution - Missense
c.729C>T; p.I243I; 5:39383230-39383230	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2107G>C; p.D703H; 5:39376680-39376680	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.891C>T; p.D297D; 5:39383068-39383068	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.729C>T; p.I243I; 5:39383230-39383230	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.302G>A; p.G101E; 5:39392393-39392393	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1484T>G; p.V495G; 5:39381474-39381474	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1450C>T; p.L484L; 5:39381508-39381508	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.584C>T; p.A195V; 5:39388839-39388839	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.822_824delCTT; p.F274delF; 5:39383135-39383137	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - In frame
c.822_824delCTT; p.F274delF; 5:39383135-39383137	stomach	adenocarcinoma	Deletion - In frame
c.112T>C; p.Y38H; 5:39393373-39393373	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.279C>T; p.I93I; 5:39392416-39392416	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1086C>T; p.G362G; 5:39382873-39382873	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma	Substitution - coding silent
c.930G>A; p.S310S; 5:39383029-39383029	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1086C>T; p.G362G; 5:39382873-39382873	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - coding silent
c.956A>C; p.Q319P; 5:39383003-39383003	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2247+4A>C; p.?; 5:39375993-39375993	liver	carcinoma	Unknown
c.1941G>A; p.E647E; 5:39376846-39376846	skin	malignant_melanoma	Substitution - coding silent
c.240G>T; p.A80A; 5:39392455-39392455	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.191G>C; p.R64T; 5:39393294-39393294	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1778C>T; p.P593L; 5:39377009-39377009	skin; mucosal	malignant_melanoma	Substitution - Missense
c.1982G>T; p.R661L; 5:39376805-39376805	upper_aerodigestive_tract; larynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1514C>T; p.T505I; 5:39377273-39377273	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2013A>T; p.G671G; 5:39376774-39376774	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1513A>T; p.T505S; 5:39377274-39377274	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.114T>A; p.Y38*; 5:39393371-39393371	oesophagus	carcinoma; adenocarcinoma	Substitution - Nonsense
c.142G>T; p.V48L; 5:39393343-39393343	skin	malignant_melanoma	Substitution - Missense
c.1144T>C; p.S382P; 5:39382815-39382815	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1144T>C; p.S382P; 5:39382815-39382815	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1144T>C; p.S382P; 5:39382815-39382815	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1387G>A; p.V463I; 5:39381571-39381571	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1387G>A; p.V463I; 5:39381571-39381571	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1387G>A; p.V463I; 5:39381571-39381571	central_nervous_system; brain	glioma	Substitution - Missense
c.331-6T>G; p.?; 5:39390581-39390581	soft_tissue; striated_muscle	rhabdomyosarcoma	Unknown
c.331-6T>G; p.?; 5:39390581-39390581	soft_tissue; striated_muscle	rhabdomyosarcoma; embryonal	Unknown
c.376C>T; p.R126C; 5:39390530-39390530	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1855C>T; p.P619S; 5:39376932-39376932	skin	malignant_melanoma	Substitution - Missense
c.1158G>T; p.Q386H; 5:39382801-39382801	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.52G>T; p.A18S; 5:39394269-39394269	large_intestine; rectum	adenoma	Substitution - Missense
c.37C>T; p.Q13*; 5:39394284-39394284	breast	carcinoma	Substitution - Nonsense
c.2116C>T; p.Q706*; 5:39376671-39376671	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Nonsense
c.446T>C; p.I149T; 5:39390460-39390460	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1318G>A; p.G440R; 5:39382641-39382641	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.2094C>T; p.D698D; 5:39376693-39376693	liver	carcinoma	Substitution - coding silent
c.454G>A; p.G152R; 5:39390452-39390452	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2094C>T; p.D698D; 5:39376693-39376693	liver	carcinoma; hepatocellular_carcinoma	Substitution - coding silent
c.1739C>T; p.A580V; 5:39377048-39377048	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1113C>A; p.T371T; 5:39382846-39382846	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.138T>C; p.D46D; 5:39393347-39393347	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.135C>T; p.G45G; 5:39393350-39393350	autonomic_ganglia	neuroblastoma	Substitution - coding silent
c.1962G>T; p.M654I; 5:39376825-39376825	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1629C>T; p.P543P; 5:39377158-39377158	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.462G>T; p.Q154H; 5:39390444-39390444	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.313A>T; p.I105F; 5:39392382-39392382	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2287G>A; p.D763N; 5:39375045-39375045	oesophagus; middle_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2287G>A; p.D763N; 5:39375045-39375045	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.287A>G; p.N96S; 5:39392408-39392408	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1338T>G; p.A446A; 5:39382621-39382621	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.307A>G; p.K103E; 5:39392388-39392388	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.892G>A; p.D298N; 5:39383067-39383067	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1145C>T; p.S382F; 5:39382814-39382814	skin	malignant_melanoma	Substitution - Missense
c.774C>T; p.N258N; 5:39383185-39383185	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.53C>T; p.A18V; 5:39394268-39394268	skin	malignant_melanoma	Substitution - Missense
c.321G>C; p.E107D; 5:39392374-39392374	urinary_tract; bladder	carcinoma	Substitution - Missense
c.858C>T; p.F286F; 5:39383101-39383101	breast	carcinoma	Substitution - coding silent
c.1863G>A; p.Q621Q; 5:39376924-39376924	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1645A>G; p.S549G; 5:39377142-39377142	prostate	carcinoma	Substitution - Missense
c.1905T>G; p.D635E; 5:39376882-39376882	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.231+2T>G; p.?; 5:39393252-39393252	endometrium	carcinoma; endometrioid_carcinoma	Unknown
c.1871C>T; p.P624L; 5:39376916-39376916	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.777C>T; p.G259G; 5:39383182-39383182	breast	carcinoma	Substitution - coding silent
c.981G>A; p.S327S; 5:39382978-39382978	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.995G>T; p.S332I; 5:39382964-39382964	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1693A>G; p.T565A; 5:39377094-39377094	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1303C>G; p.Q435E; 5:39382656-39382656	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.239C>T; p.A80V; 5:39392456-39392456	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1648C>T; p.P550S; 5:39377139-39377139	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.966G>T; p.E322D; 5:39382993-39382993	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2004G>A; p.A668A; 5:39376783-39376783	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2004G>A; p.A668A; 5:39376783-39376783	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1585C>G; p.P529A; 5:39377202-39377202	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.43G>A; p.D15N; 5:39394278-39394278	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1585C>G; p.P529A; 5:39377202-39377202	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1361T>G; p.L454R; 5:39381597-39381597	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1845C>T; p.L615L; 5:39376942-39376942	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2285G>C; p.R762T; 5:39375047-39375047	bone; femur	chondrosarcoma	Substitution - Missense
c.1024T>G; p.Y342D; 5:39382935-39382935	kidney	other; neoplasm	Substitution - Missense
c.337G>A; p.E113K; 5:39390569-39390569	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1680C>T; p.P560P; 5:39377107-39377107	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.586C>T; p.L196L; 5:39388837-39388837	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.10G>A; p.E4K; 5:39394311-39394311	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2153C>A; p.A718D; 5:39376091-39376091	thyroid	carcinoma; anaplastic_carcinoma	Substitution - Missense
c.1926A>G; p.P642P; 5:39376861-39376861	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1106C>T; p.S369L; 5:39382853-39382853	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1302A>G; p.P434P; 5:39382657-39382657	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1106C>T; p.S369L; 5:39382853-39382853	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1549G>T; p.A517S; 5:39377238-39377238	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1870C>T; p.P624S; 5:39376917-39376917	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1386C>T; p.P462P; 5:39381572-39381572	skin	malignant_melanoma	Substitution - coding silent
c.1931G>T; p.G644V; 5:39376856-39376856	breast	carcinoma	Substitution - Missense
c.275G>A; p.R92K; 5:39392420-39392420	skin	malignant_melanoma	Substitution - Missense
c.2154T>A; p.A718A; 5:39376090-39376090	oesophagus	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1817C>T; p.T606I; 5:39376970-39376970	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2291C>T; p.P764L; 5:39375041-39375041	skin	malignant_melanoma	Substitution - Missense
c.1947G>T; p.K649N; 5:39376840-39376840	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense

Mutation summary in protein domains

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

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Loss of Function mutations compare to missense mutations

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The copy number variations for various cancers

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COSMIC somatic mutation [Top]