Entrez Gene

Basic Information
Gene ID	5098
Name	PCDHGC3
Synonymous	protocadherin gamma subfamily C, 3;PCDHGC3;protocadherin gamma subfamily C, 3
Definition	cadherin-like 2\|protocadherin 2\|protocadherin 43\|protocadherin gamma-C3\|protocadherin-2\|protocadherin-43
Position	5q31
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 0.18.

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.2424C>T; p.P808P; 5:141478540-141478540	skin	malignant_melanoma	Substitution - coding silent
c.1388A>G; p.D463G; 5:141477504-141477504	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.139_147delGTGGGCAAC; p.G48_V50delGNV; 5:141476255-141476263	ovary	carcinoma; serous_carcinoma	Deletion - In frame
c.2086C>A; p.L696I; 5:141478202-141478202	central_nervous_system; brain	glioma	Substitution - Missense
c.2086C>A; p.L696I; 5:141478202-141478202	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2727A>G; p.A909A; 5:141511095-141511095	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.661A>G; p.T221A; 5:141476777-141476777	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.755G>A; p.R252H; 5:141476871-141476871	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1570C>G; p.P524A; 5:141477686-141477686	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2416G>T; p.A806S; 5:141478532-141478532	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.953A>G; p.H318R; 5:141477069-141477069	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.2399T>G; p.V800G; 5:141478515-141478515	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2092C>G; p.L698V; 5:141478208-141478208	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1791C>A; p.D597E; 5:141477907-141477907	skin	malignant_melanoma	Substitution - Missense
c.1891G>T; p.A631S; 5:141478007-141478007	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1893C>T; p.A631A; 5:141478009-141478009	oesophagus	carcinoma	Substitution - coding silent
c.1212G>T; p.K404N; 5:141477328-141477328	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2363C>T; p.T788M; 5:141478479-141478479	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.600C>T; p.R200R; 5:141476716-141476716	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.136G>A; p.A46T; 5:141476252-141476252	skin	malignant_melanoma	Substitution - Missense
c.2230G>T; p.A744S; 5:141478346-141478346	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2178A>G; p.L726L; 5:141478294-141478294	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - coding silent
c.1373C>A; p.S458Y; 5:141477489-141477489	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2075T>G; p.F692C; 5:141478191-141478191	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2571C>T; p.S857S; 5:141505474-141505474	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1478C>A; p.S493Y; 5:141477594-141477594	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1361C>T; p.P454L; 5:141477477-141477477	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2382G>A; p.P794P; 5:141478498-141478498	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1830C>T; p.L610L; 5:141477946-141477946	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1389C>T; p.D463D; 5:141477505-141477505	thyroid	carcinoma	Substitution - coding silent
c.864C>T; p.R288R; 5:141476980-141476980	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1516G>C; p.V506L; 5:141477632-141477632	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1469C>T; p.A490V; 5:141477585-141477585	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2247A>G; p.G749G; 5:141478363-141478363	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1141G>A; p.A381T; 5:141477257-141477257	breast	carcinoma	Substitution - Missense
c.1636G>T; p.V546F; 5:141477752-141477752	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.616C>T; p.R206W; 5:141476732-141476732	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.616C>T; p.R206W; 5:141476732-141476732	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1964C>T; p.S655L; 5:141478080-141478080	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1461G>A; p.P487P; 5:141477577-141477577	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2242C>G; p.R748G; 5:141478358-141478358	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.1570C>A; p.P524T; 5:141477686-141477686	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2310C>T; p.D770D; 5:141478426-141478426	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1570C>A; p.P524T; 5:141477686-141477686	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.242G>A; p.R81Q; 5:141476358-141476358	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1744C>A; p.R582R; 5:141477860-141477860	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.2800_2802delAAG; p.K934delK; 5:141511168-141511170	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; mantle_cell_lymphoma	Deletion - In frame
c.43A>G; p.R15G; 5:141476159-141476159	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.170A>C; p.D57A; 5:141476286-141476286	thyroid	other; neoplasm	Substitution - Missense
c.1045G>A; p.A349T; 5:141477161-141477161	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.2638C>T; p.R880C; 5:141511006-141511006	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2003A>G; p.E668G; 5:141478119-141478119	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1227G>A; p.L409L; 5:141477343-141477343	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - coding silent
c.436G>A; p.E146K; 5:141476552-141476552	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1390G>A; p.V464I; 5:141477506-141477506	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.436G>A; p.E146K; 5:141476552-141476552	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2601C>T; p.T867T; 5:141510969-141510969	skin	malignant_melanoma	Substitution - coding silent
c.1390G>A; p.V464I; 5:141477506-141477506	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.244G>A; p.E82K; 5:141476360-141476360	breast	carcinoma	Substitution - Missense
c.2382G>T; p.P794P; 5:141478498-141478498	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.2631G>C; p.L877F; 5:141510999-141510999	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2238C>G; p.A746A; 5:141478354-141478354	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.2365C>A; p.L789M; 5:141478481-141478481	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.556A>G; p.T186A; 5:141476672-141476672	liver	carcinoma	Substitution - Missense
c.556A>G; p.T186A; 5:141476672-141476672	liver	carcinoma	Substitution - Missense
c.1977delT; p.A660fs*7; 5:141478093-141478093	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; chronic_myelomonocytic_leukaemia	Deletion - Frameshift
c.504_505delTT; p.L169fs*4; 5:141476620-141476621	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Deletion - Frameshift
c.1472G>A; p.R491Q; 5:141477588-141477588	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.200G>T; p.R67L; 5:141476316-141476316	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.871G>A; p.V291M; 5:141476987-141476987	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.675C>T; p.S225S; 5:141476791-141476791	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1289G>A; p.R430Q; 5:141477405-141477405	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.1289G>A; p.R430Q; 5:141477405-141477405	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; acute_lymphoblastic_T_cell_leukaemia	Substitution - Missense
c.2668G>A; p.V890M; 5:141511036-141511036	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1711C>T; p.R571W; 5:141477827-141477827	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2040C>T; p.G680G; 5:141478156-141478156	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2613T>C; p.G871G; 5:141510981-141510981	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1039G>A; p.D347N; 5:141477155-141477155	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.718A>G; p.N240D; 5:141476834-141476834	salivary_gland	carcinoma; adenoid_cystic_carcinoma	Substitution - Missense
c.2690T>C; p.V897A; 5:141511058-141511058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2690T>C; p.V897A; 5:141511058-141511058	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2690T>C; p.V897A; 5:141511058-141511058	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2690T>C; p.V897A; 5:141511058-141511058	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.621G>A; p.E207E; 5:141476737-141476737	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1952A>G; p.N651S; 5:141478068-141478068	skin	malignant_melanoma	Substitution - Missense
c.1099C>T; p.L367L; 5:141477215-141477215	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1774C>T; p.R592W; 5:141477890-141477890	soft_tissue; fat	liposarcoma; myxoid-round_cell	Substitution - Missense
c.922G>A; p.G308S; 5:141477038-141477038	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1387G>A; p.D463N; 5:141477503-141477503	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.879A>G; p.Q293Q; 5:141476995-141476995	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.24C>T; p.S8S; 5:141476140-141476140	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.143G>C; p.G48A; 5:141476259-141476259	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2634C>T; p.S878S; 5:141511002-141511002	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.357C>T; p.F119F; 5:141476473-141476473	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2634C>T; p.S878S; 5:141511002-141511002	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1935G>A; p.T645T; 5:141478051-141478051	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.903C>T; p.T301T; 5:141477019-141477019	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.903C>T; p.T301T; 5:141477019-141477019	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1418G>T; p.G473V; 5:141477534-141477534	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.161T>G; p.L54R; 5:141476277-141476277	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.161T>G; p.L54R; 5:141476277-141476277	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1540C>T; p.R514C; 5:141477656-141477656	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1540C>T; p.R514C; 5:141477656-141477656	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2369G>T; p.R790L; 5:141478485-141478485	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.2790G>A; p.K930K; 5:141511158-141511158	breast	carcinoma	Substitution - coding silent
c.1033G>A; p.V345M; 5:141477149-141477149	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1033G>A; p.V345M; 5:141477149-141477149	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.2051G>A; p.R684Q; 5:141478167-141478167	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1588C>A; p.R530R; 5:141477704-141477704	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2775G>C; p.K925N; 5:141511143-141511143	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2792_2794delAGG; p.E932delE; 5:141511160-141511162	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - In frame
c.2048C>T; p.P683L; 5:141478164-141478164	skin	malignant_melanoma	Substitution - Missense
c.2690T>G; p.V897G; 5:141511058-141511058	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1592G>T; p.R531L; 5:141477708-141477708	liver	carcinoma	Substitution - Missense
c.900A>T; p.V300V; 5:141477016-141477016	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2511C>T; p.T837T; 5:141505414-141505414	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2795_2797delAGA; p.K934delK; 5:141511163-141511165	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - In frame
c.2059delA; p.N689fs*10; 5:141478175-141478175	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2059delA; p.N689fs*10; 5:141478175-141478175	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2059delA; p.N689fs*10; 5:141478175-141478175	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2059delA; p.N689fs*10; 5:141478175-141478175	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2059delA; p.N689fs*10; 5:141478175-141478175	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2059delA; p.N689fs*10; 5:141478175-141478175	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2059delA; p.N689fs*10; 5:141478175-141478175	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.601G>A; p.A201T; 5:141476717-141476717	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2059delA; p.N689fs*10; 5:141478175-141478175	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2059delA; p.N689fs*10; 5:141478175-141478175	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2059delA; p.N689fs*10; 5:141478175-141478175	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.797T>C; p.V266A; 5:141476913-141476913	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.172C>A; p.L58I; 5:141476288-141476288	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1793C>T; p.A598V; 5:141477909-141477909	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.543G>A; p.A181A; 5:141476659-141476659	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2167T>A; p.S723T; 5:141478283-141478283	NS	malignant_melanoma	Substitution - Missense
c.831T>G; p.G277G; 5:141476947-141476947	breast	carcinoma	Substitution - coding silent
c.432T>G; p.I144M; 5:141476548-141476548	breast	carcinoma	Substitution - Missense
c.527G>A; p.R176Q; 5:141476643-141476643	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1818C>T; p.L606L; 5:141477934-141477934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.960T>G; p.I320M; 5:141477076-141477076	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2294A>C; p.D765A; 5:141478410-141478410	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.267C>T; p.N89N; 5:141476383-141476383	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.548G>A; p.R183H; 5:141476664-141476664	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1330C>T; p.R444C; 5:141477446-141477446	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1330C>T; p.R444C; 5:141477446-141477446	large_intestine; colon	NS	Substitution - Missense
c.2204A>C; p.Y735S; 5:141478320-141478320	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.2045delC; p.R684fs*15; 5:141478161-141478161	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2045delC; p.R684fs*15; 5:141478161-141478161	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2045delC; p.R684fs*15; 5:141478161-141478161	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.559C>T; p.R187W; 5:141476675-141476675	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2045delC; p.R684fs*15; 5:141478161-141478161	oesophagus; lower_third	carcinoma; adenocarcinoma	Deletion - Frameshift
c.147C>T; p.N49N; 5:141476263-141476263	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.47T>C; p.V16A; 5:141476163-141476163	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.936C>T; p.F312F; 5:141477052-141477052	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2681G>A; p.R894H; 5:141511049-141511049	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1745G>A; p.R582Q; 5:141477861-141477861	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2724C>T; p.N908N; 5:141511092-141511092	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.536A>G; p.Y179C; 5:141476652-141476652	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1692C>T; p.A564A; 5:141477808-141477808	skin	malignant_melanoma	Substitution - coding silent
c.984C>T; p.G328G; 5:141477100-141477100	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.984C>T; p.G328G; 5:141477100-141477100	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1600G>A; p.E534K; 5:141477716-141477716	biliary_tract; gallbladder	carcinoma; adenocarcinoma	Substitution - Missense
c.1630A>C; p.T544P; 5:141477746-141477746	skin; upper_arm	malignant_melanoma	Substitution - Missense
c.757G>A; p.V253I; 5:141476873-141476873	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1297G>A; p.G433R; 5:141477413-141477413	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.753G>A; p.A251A; 5:141476869-141476869	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1675G>A; p.D559N; 5:141477791-141477791	urinary_tract; bladder	carcinoma	Substitution - Missense
c.547C>T; p.R183C; 5:141476663-141476663	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.547C>T; p.R183C; 5:141476663-141476663	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2639G>A; p.R880H; 5:141511007-141511007	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.925C>T; p.R309W; 5:141477041-141477041	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.298A>G; p.T100A; 5:141476414-141476414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1177C>T; p.P393S; 5:141477293-141477293	skin; extremity	malignant_melanoma	Substitution - Missense
c.2625G>A; p.M875I; 5:141510993-141510993	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1354G>A; p.D452N; 5:141477470-141477470	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.874C>T; p.R292W; 5:141476990-141476990	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1790A>G; p.D597G; 5:141477906-141477906	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1790A>G; p.D597G; 5:141477906-141477906	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.870C>T; p.G290G; 5:141476986-141476986	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.135C>A; p.F45L; 5:141476251-141476251	skin	malignant_melanoma	Substitution - Missense
c.542C>T; p.A181V; 5:141476658-141476658	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2667C>T; p.H889H; 5:141511035-141511035	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2270A>C; p.Y757S; 5:141478386-141478386	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.885C>T; p.F295F; 5:141477001-141477001	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1319T>G; p.L440R; 5:141477435-141477435	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1555G>C; p.V519L; 5:141477671-141477671	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.945C>A; p.T315T; 5:141477061-141477061	thyroid	other; neoplasm	Substitution - coding silent
c.1497A>G; p.Q499Q; 5:141477613-141477613	breast	carcinoma	Substitution - coding silent
c.2556C>T; p.A852A; 5:141505459-141505459	skin	malignant_melanoma	Substitution - coding silent
c.1582G>A; p.E528K; 5:141477698-141477698	skin	malignant_melanoma	Substitution - Missense
c.487G>A; p.D163N; 5:141476603-141476603	urinary_tract; bladder	carcinoma	Substitution - Missense
c.644C>T; p.T215M; 5:141476760-141476760	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.644C>T; p.T215M; 5:141476760-141476760	large_intestine; colon	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]