Entrez Gene

Basic Information
Gene ID	2202
Name	EFEMP1

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
The somatic mutations from COSMIC database
c.248A>G; p.Q83R; 2:55917934-55917934	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.171T>A; p.G57G; 2:55918011-55918011	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.188A>G; p.N63S; 2:55917994-55917994	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.110C>A; p.P37H; 2:55918239-55918239	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.106G>A; p.D36N; 2:55918243-55918243	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1042G>A; p.E348K; 2:55871082-55871082	skin	malignant_melanoma	Substitution - Missense
c.1297G>A; p.E433K; 2:55870743-55870743	skin	malignant_melanoma	Substitution - Missense
c.449C>T; p.P150L; 2:55917733-55917733	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.519C>T; p.D173D; 2:55881733-55881733	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.724G>C; p.G242R; 2:55877782-55877782	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.81G>A; p.T27T; 2:55922360-55922360	skin	malignant_melanoma	Substitution - coding silent
c.408C>T; p.N136N; 2:55917774-55917774	skin	malignant_melanoma	Substitution - coding silent
c.298G>T; p.G100W; 2:55917884-55917884	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1353C>T; p.L451L; 2:55867202-55867202	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.928G>A; p.V310I; 2:55875018-55875018	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.508G>A; p.V170M; 2:55917674-55917674	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.655A>G; p.T219A; 2:55877851-55877851	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.655A>G; p.T219A; 2:55877851-55877851	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.377C>G; p.A126G; 2:55917805-55917805	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1090C>T; p.P364S; 2:55871034-55871034	NS	malignant_melanoma	Substitution - Missense
c.587C>A; p.S196Y; 2:55881665-55881665	urinary_tract; bladder	carcinoma	Substitution - Missense
c.241A>G; p.N81D; 2:55917941-55917941	liver	carcinoma	Substitution - Missense
c.662C>T; p.P221L; 2:55877844-55877844	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.244G>T; p.E82*; 2:55917938-55917938	pancreas	NS	Substitution - Nonsense
c.807C>T; p.Y269Y; 2:55876696-55876696	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.533C>T; p.T178I; 2:55881719-55881719	liver	carcinoma	Substitution - Missense
c.533C>T; p.T178I; 2:55881719-55881719	liver	carcinoma	Substitution - Missense
c.1072C>T; p.R358C; 2:55871052-55871052	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.989G>A; p.R330K; 2:55874957-55874957	skin; nipple	malignant_melanoma	Substitution - Missense
c.4T>G; p.L2V; 2:55922437-55922437	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.127A>T; p.K43*; 2:55918222-55918222	ovary	carcinoma; serous_carcinoma	Substitution - Nonsense
c.1065C>T; p.G355G; 2:55871059-55871059	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1065C>T; p.G355G; 2:55871059-55871059	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1065C>T; p.G355G; 2:55871059-55871059	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1136G>A; p.C379Y; 2:55870904-55870904	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.588C>A; p.S196S; 2:55881664-55881664	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.80C>T; p.T27M; 2:55922361-55922361	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.228G>A; p.Q76Q; 2:55917954-55917954	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.228G>A; p.Q76Q; 2:55917954-55917954	skin	malignant_melanoma	Substitution - coding silent
c.371delC; p.A124fs*51; 2:55917811-55917811	breast	carcinoma	Deletion - Frameshift
c.407A>C; p.N136T; 2:55917775-55917775	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.754T>C; p.C252R; 2:55877752-55877752	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1455A>G; p.T485T; 2:55867100-55867100	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1453A>G; p.T485A; 2:55867102-55867102	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.886G>A; p.D296N; 2:55875060-55875060	skin	malignant_melanoma	Substitution - Missense
c.466C>T; p.R156C; 2:55917716-55917716	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.61G>A; p.E21K; 2:55922380-55922380	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.1201C>T; p.R401*; 2:55870839-55870839	breast	carcinoma	Substitution - Nonsense
c.36G>A; p.L12L; 2:55922405-55922405	breast	carcinoma	Substitution - coding silent
c.952T>C; p.C318R; 2:55874994-55874994	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.1085G>A; p.R362Q; 2:55871039-55871039	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1085G>A; p.R362Q; 2:55871039-55871039	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1085G>A; p.R362Q; 2:55871039-55871039	skin	malignant_melanoma	Substitution - Missense
c.1085G>A; p.R362Q; 2:55871039-55871039	skin	malignant_melanoma	Substitution - Missense
c.544C>T; p.H182Y; 2:55881708-55881708	oesophagus; upper_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1096C>G; p.Q366E; 2:55871028-55871028	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1073G>A; p.R358H; 2:55871051-55871051	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.216G>A; p.P72P; 2:55917966-55917966	pancreas	carcinoma	Substitution - coding silent
c.227A>G; p.Q76R; 2:55917955-55917955	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.401G>A; p.R134Q; 2:55917781-55917781	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.421C>T; p.R141W; 2:55917761-55917761	pancreas	carcinoma	Substitution - Missense
c.131-1G>A; p.?; 2:55918052-55918052	skin	malignant_melanoma	Unknown
c.779C>T; p.A260V; 2:55876724-55876724	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1060C>T; p.H354Y; 2:55871064-55871064	skin	malignant_melanoma	Substitution - Missense
c.94G>T; p.G32*; 2:55918255-55918255	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.889G>A; p.E297K; 2:55875057-55875057	skin; mucosal	malignant_melanoma	Substitution - Missense
c.215C>T; p.P72L; 2:55917967-55917967	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; diffuse_large_B_cell_lymphoma	Substitution - Missense
c.725G>A; p.G242E; 2:55877781-55877781	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.409T>C; p.F137L; 2:55917773-55917773	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.11C>T; p.A4V; 2:55922430-55922430	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1019C>A; p.T340N; 2:55871105-55871105	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.605C>A; p.P202H; 2:55881647-55881647	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.581G>A; p.R194Q; 2:55881671-55881671	skin	malignant_melanoma	Substitution - Missense
c.756C>T; p.C252C; 2:55877750-55877750	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1033C>T; p.R345W; 2:55871091-55871091	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1033C>T; p.R345W; 2:55871091-55871091	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1033C>T; p.R345W; 2:55871091-55871091	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1033C>T; p.R345W; 2:55871091-55871091	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.244G>A; p.E82K; 2:55917938-55917938	breast	carcinoma	Substitution - Missense
c.448C>T; p.P150S; 2:55917734-55917734	urinary_tract; bladder	carcinoma	Substitution - Missense
c.724G>A; p.G242R; 2:55877782-55877782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.598C>T; p.Q200*; 2:55881654-55881654	skin	malignant_melanoma	Substitution - Nonsense
c.146A>G; p.D49G; 2:55918036-55918036	central_nervous_system; brain	glioma	Substitution - Missense
c.1448G>C; p.R483T; 2:55867107-55867107	breast	carcinoma	Substitution - Missense
c.724G>A; p.G242R; 2:55877782-55877782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1263C>T; p.N421N; 2:55870777-55870777	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1438T>C; p.S480P; 2:55867117-55867117	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.536C>A; p.A179E; 2:55881716-55881716	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.261A>T; p.E87D; 2:55917921-55917921	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1421G>A; p.G474E; 2:55867134-55867134	prostate	carcinoma	Substitution - Missense
c.684C>T; p.C228C; 2:55877822-55877822	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.130+2T>C; p.?; 2:55918217-55918217	large_intestine; caecum	carcinoma; adenocarcinoma	Unknown
c.130+2T>C; p.?; 2:55918217-55918217	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.489C>G; p.Y163*; 2:55917693-55917693	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.130G>T; p.D44Y; 2:55918219-55918219	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.443G>A; p.R148H; 2:55917739-55917739	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.622C>T; p.R208*; 2:55881630-55881630	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.622C>T; p.R208*; 2:55881630-55881630	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1001-1G>T; p.?; 2:55871124-55871124	oesophagus	carcinoma; adenocarcinoma	Unknown
c.1171C>T; p.Q391*; 2:55870869-55870869	skin	malignant_melanoma	Substitution - Nonsense
c.422G>C; p.R141P; 2:55917760-55917760	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.118C>A; p.Q40K; 2:55918231-55918231	prostate	carcinoma	Substitution - Missense
c.171T>G; p.G57G; 2:55918011-55918011	breast	carcinoma	Substitution - coding silent
c.873C>T; p.N291N; 2:55876630-55876630	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.278G>A; p.G93E; 2:55917904-55917904	skin	malignant_melanoma	Substitution - Missense
c.39G>A; p.A13A; 2:55922402-55922402	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.365C>T; p.A122V; 2:55917817-55917817	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.486_487delCT; p.Y163fs*4; 2:55917695-55917696	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.370G>T; p.A124S; 2:55917812-55917812	breast	carcinoma	Substitution - Missense
c.318C>T; p.S106S; 2:55917864-55917864	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1230C>T; p.I410I; 2:55870810-55870810	skin	malignant_melanoma	Substitution - coding silent
c.1188A>G; p.K396K; 2:55870852-55870852	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.824T>C; p.F275S; 2:55876679-55876679	liver	carcinoma	Substitution - Missense
c.1428C>A; p.F476L; 2:55867127-55867127	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.633G>T; p.Q211H; 2:55881619-55881619	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1265C>T; p.T422I; 2:55870775-55870775	skin	malignant_melanoma	Substitution - Missense
c.1205C>T; p.S402F; 2:55870835-55870835	skin	malignant_melanoma	Substitution - Missense
c.365C>A; p.A122D; 2:55917817-55917817	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1000+9A>T; p.?; 2:55874937-55874937	pancreas	carcinoma	Unknown
c.250C>A; p.P84T; 2:55917932-55917932	ovary	other; neoplasm	Substitution - Missense
c.187A>G; p.N63D; 2:55917995-55917995	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.91G>A; p.D31N; 2:55918258-55918258	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.517+2T>A; p.?; 2:55917663-55917663	breast	carcinoma	Unknown
c.273A>C; p.A91A; 2:55917909-55917909	breast	carcinoma	Substitution - coding silent
c.31A>G; p.T11A; 2:55922410-55922410	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1203A>T; p.R401R; 2:55870837-55870837	skin	malignant_melanoma	Substitution - coding silent
c.983G>C; p.R328T; 2:55874963-55874963	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1242G>A; p.Q414Q; 2:55870798-55870798	pancreas	carcinoma	Substitution - coding silent
c.1402C>T; p.L468L; 2:55867153-55867153	liver	carcinoma	Substitution - coding silent
c.1402C>T; p.L468L; 2:55867153-55867153	liver	carcinoma	Substitution - coding silent
c.1402C>T; p.L468L; 2:55867153-55867153	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.276A>C; p.E92D; 2:55917906-55917906	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.757G>A; p.V253I; 2:55877749-55877749	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.543G>A; p.T181T; 2:55881709-55881709	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1292G>A; p.G431E; 2:55870748-55870748	skin	malignant_melanoma	Substitution - Missense
c.1292G>A; p.G431E; 2:55870748-55870748	skin	malignant_melanoma	Substitution - Missense
c.1035G>A; p.R345R; 2:55871089-55871089	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.453C>T; p.S151S; 2:55917729-55917729	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.526G>A; p.E176K; 2:55881726-55881726	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.419G>A; p.R140Q; 2:55917763-55917763	skin	malignant_melanoma	Substitution - Missense
c.1124+8A>G; p.?; 2:55870992-55870992	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.679A>G; p.R227G; 2:55877827-55877827	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.467G>A; p.R156H; 2:55917715-55917715	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.400C>T; p.R134*; 2:55917782-55917782	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.400C>T; p.R134*; 2:55917782-55917782	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.656C>A; p.T219N; 2:55877850-55877850	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.557C>T; p.A186V; 2:55881695-55881695	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.736G>A; p.A246T; 2:55877770-55877770	skin	malignant_melanoma	Substitution - Missense
c.18C>T; p.F6F; 2:55922423-55922423	skin	malignant_melanoma	Substitution - coding silent
c.588C>T; p.S196S; 2:55881664-55881664	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.130+3G>A; p.?; 2:55918216-55918216	liver	carcinoma	Unknown
c.637G>A; p.V213I; 2:55881615-55881615	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.130+3G>A; p.?; 2:55918216-55918216	liver	carcinoma	Unknown
c.1336A>C; p.S446R; 2:55867219-55867219	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1336A>C; p.S446R; 2:55867219-55867219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.60C>T; p.T20T; 2:55922381-55922381	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.740C>A; p.A247E; 2:55877766-55877766	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

The somatic mutations from COSMIC database