lung cancer gene and literature database Home

Annotation category 5

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

Gene information

Gene ID	9718
Symbol	ECE2
Synonymous	-
Full name	endothelin converting enzyme 2
Gene description	endothelin-converting enzyme 2
Cytoband	3q27.1
Gene type	protein-coding
Synonymous	MIM:610145; HGNC:HGNC:13275; Ensembl:ENSG00000145194; HPRD:09931; Vega:OTTHUMG00000150551

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1149G>T; p.L383L; 3:184285565-184285565	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.452C>G; p.S151C; 3:184277985-184277985	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1956G>C; p.L652L; 3:184291361-184291361	oesophagus	carcinoma	Substitution - coding silent
c.1313G>A; p.R438Q; 3:184289462-184289462	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1248C>T; p.L416L; 3:184287908-184287908	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2130C>T; p.S710S; 3:184292157-184292157	skin	malignant_melanoma	Substitution - coding silent
c.1313G>A; p.R438Q; 3:184289462-184289462	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.48C>T; p.F16F; 3:184276900-184276900	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1214C>T; p.T405M; 3:184287874-184287874	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2157C>T; p.F719F; 3:184292184-184292184	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.103G>A; p.A35T; 3:184276955-184276955	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2157C>T; p.F719F; 3:184292184-184292184	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.2051G>A; p.R684H; 3:184292078-184292078	breast	carcinoma	Substitution - Missense
c.1574G>A; p.S525N; 3:184290562-184290562	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1574G>A; p.S525N; 3:184290562-184290562	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.1574G>A; p.S525N; 3:184290562-184290562	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.2019C>T; p.F673F; 3:184291424-184291424	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2019C>T; p.F673F; 3:184291424-184291424	skin	malignant_melanoma	Substitution - coding silent
c.2004C>G; p.N668K; 3:184291409-184291409	prostate	carcinoma	Substitution - Missense
c.1009G>A; p.G337R; 3:184285053-184285053	skin; extremity	malignant_melanoma	Substitution - Missense
c.1085G>T; p.W362L; 3:184285501-184285501	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1215G>A; p.T405T; 3:184287875-184287875	skin	malignant_melanoma	Substitution - coding silent
c.439C>T; p.R147C; 3:184277972-184277972	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1695T>C; p.G565G; 3:184290808-184290808	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1480G>T; p.D494Y; 3:184290270-184290270	breast	carcinoma	Substitution - Missense
c.306G>A; p.R102R; 3:184277381-184277381	skin	malignant_melanoma	Substitution - coding silent
c.2140G>C; p.D714H; 3:184292167-184292167	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1569-6C>T; p.?; 3:184290551-184290551	pancreas	carcinoma	Unknown
c.1692C>T; p.F564F; 3:184290805-184290805	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1752C>T; p.R584R; 3:184291044-184291044	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1354G>A; p.D452N; 3:184289503-184289503	pancreas	carcinoma	Substitution - Missense
c.1716C>T; p.G572G; 3:184290829-184290829	skin	malignant_melanoma	Substitution - coding silent
c.906T>A; p.I302I; 3:184283961-184283961	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.456C>T; p.C152C; 3:184277989-184277989	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.797C>A; p.T266K; 3:184283852-184283852	lung	carcinoma; non_small_cell_carcinoma	Substitution - Missense
c.341C>T; p.T114I; 3:184277416-184277416	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2160C>T; p.G720G; 3:184292187-184292187	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.786G>A; p.R262R; 3:184283841-184283841	breast	carcinoma	Substitution - coding silent
c.323G>A; p.G108E; 3:184277398-184277398	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1770G>A; p.G590G; 3:184291062-184291062	skin	malignant_melanoma	Substitution - coding silent
c.1173G>T; p.K391N; 3:184285589-184285589	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1387-7T>A; p.?; 3:184289634-184289634	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.2020G>A; p.V674M; 3:184291425-184291425	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2046G>A; p.S682S; 3:184292073-184292073	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2046G>T; p.S682S; 3:184292073-184292073	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1252G>A; p.V418M; 3:184287912-184287912	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.83C>T; p.T28M; 3:184276935-184276935	breast	carcinoma	Substitution - Missense
c.440G>A; p.R147H; 3:184277973-184277973	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1667G>A; p.R556H; 3:184290655-184290655	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.919G>A; p.A307T; 3:184284963-184284963	skin	malignant_melanoma	Substitution - Missense
c.1222G>A; p.A408T; 3:184287882-184287882	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1222G>A; p.A408T; 3:184287882-184287882	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1222G>A; p.A408T; 3:184287882-184287882	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1222G>A; p.A408T; 3:184287882-184287882	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1627G>A; p.V543I; 3:184290615-184290615	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1777C>T; p.R593W; 3:184291069-184291069	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2150G>T; p.R717L; 3:184292177-184292177	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2170G>A; p.G724S; 3:184292197-184292197	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.113C>G; p.S38C; 3:184276965-184276965	upper_aerodigestive_tract; pharynx	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1750C>T; p.R584C; 3:184291042-184291042	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.609C>A; p.F203L; 3:184278259-184278259	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1865G>A; p.G622E; 3:184291157-184291157	skin	malignant_melanoma	Substitution - Missense
c.1814G>A; p.R605Q; 3:184291106-184291106	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.807G>C; p.Q269H; 3:184283862-184283862	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1813C>T; p.R605W; 3:184291105-184291105	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1305C>A; p.S435R; 3:184289454-184289454	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1279A>T; p.K427*; 3:184287939-184287939	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Nonsense
c.1741G>A; p.D581N; 3:184290854-184290854	skin	malignant_melanoma	Substitution - Missense
c.1279A>T; p.K427*; 3:184287939-184287939	urinary_tract; bladder	carcinoma	Substitution - Nonsense
c.2110C>T; p.R704C; 3:184292137-184292137	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1915G>A; p.G639R; 3:184291207-184291207	peritoneum; appendix	other; pseudomyxoma_peritonei	Substitution - Missense
c.876C>A; p.D292E; 3:184283931-184283931	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1461C>G; p.D487E; 3:184289715-184289715	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.470G>A; p.R157H; 3:184278003-184278003	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1748-2delA; p.?; 3:184291038-184291038	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.413G>T; p.S138I; 3:184277946-184277946	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1626C>T; p.I542I; 3:184290614-184290614	skin; head_neck	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.1626C>T; p.I542I; 3:184290614-184290614	skin	malignant_melanoma	Substitution - coding silent
c.1626C>T; p.I542I; 3:184290614-184290614	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1183G>A; p.V395M; 3:184287843-184287843	skin	malignant_melanoma	Substitution - Missense
c.2071G>A; p.E691K; 3:184292098-184292098	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2071G>A; p.E691K; 3:184292098-184292098	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1429C>T; p.L477L; 3:184289683-184289683	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.916C>T; p.Q306*; 3:184283971-184283971	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1879G>A; p.G627S; 3:184291171-184291171	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.527G>A; p.W176*; 3:184278177-184278177	skin	malignant_melanoma	Substitution - Nonsense
c.469C>T; p.R157C; 3:184278002-184278002	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.259C>A; p.P87T; 3:184277334-184277334	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1388C>A; p.A463E; 3:184289642-184289642	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1131G>T; p.E377D; 3:184285547-184285547	breast	carcinoma	Substitution - Missense
c.1545C>T; p.L515L; 3:184290335-184290335	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1244C>T; p.S415F; 3:184287904-184287904	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1899G>T; p.E633D; 3:184291191-184291191	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1470A>C; p.E490D; 3:184290260-184290260	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2045C>T; p.S682L; 3:184292072-184292072	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Substitution - Missense
c.1387-6C>A; p.?; 3:184289635-184289635	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1484C>A; p.S495Y; 3:184290274-184290274	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.67C>T; p.L23L; 3:184276919-184276919	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.656T>C; p.V219A; 3:184278306-184278306	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.205G>A; p.A69T; 3:184277280-184277280	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1404T>C; p.D468D; 3:184289658-184289658	lung	carcinoma; small_cell_carcinoma	Substitution - coding silent
c.231C>T; p.I77I; 3:184277306-184277306	skin	malignant_melanoma	Substitution - coding silent
c.202G>A; p.E68K; 3:184277277-184277277	skin	malignant_melanoma	Substitution - Missense
c.1772A>G; p.N591S; 3:184291064-184291064	skin	malignant_melanoma	Substitution - Missense
c.231C>T; p.I77I; 3:184277306-184277306	skin	malignant_melanoma	Substitution - coding silent
c.231C>T; p.I77I; 3:184277306-184277306	skin; arm	malignant_melanoma	Substitution - coding silent
c.877G>A; p.E293K; 3:184283932-184283932	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1273C>T; p.Q425*; 3:184287933-184287933	ovary	other; neoplasm	Substitution - Nonsense
c.332G>A; p.R111H; 3:184277407-184277407	breast	carcinoma	Substitution - Missense
c.423T>C; p.A141A; 3:184277956-184277956	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1312C>T; p.R438W; 3:184289461-184289461	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.800G>A; p.R267K; 3:184283855-184283855	skin	malignant_melanoma	Substitution - Missense
c.1728G>A; p.T576T; 3:184290841-184290841	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.97G>C; p.V33L; 3:184276949-184276949	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1659C>T; p.F553F; 3:184290647-184290647	skin	malignant_melanoma	Substitution - coding silent
c.803A>T; p.E268V; 3:184283858-184283858	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.713G>A; p.R238K; 3:184278541-184278541	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.713G>T; p.R238I; 3:184278541-184278541	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.784C>T; p.R262W; 3:184283839-184283839	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1251C>A; p.F417L; 3:184287911-184287911	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.813G>T; p.Q271H; 3:184283868-184283868	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.674C>A; p.S225Y; 3:184278502-184278502	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1065C>A; p.I355I; 3:184285481-184285481	breast	carcinoma	Substitution - coding silent
c.2109C>T; p.F703F; 3:184292136-184292136	skin	malignant_melanoma	Substitution - coding silent
c.110C>A; p.A37D; 3:184276962-184276962	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1251C>T; p.F417F; 3:184287911-184287911	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.303G>A; p.R101R; 3:184277378-184277378	skin	malignant_melanoma	Substitution - coding silent
c.303G>A; p.R101R; 3:184277378-184277378	skin	malignant_melanoma	Substitution - coding silent
c.2119_2120GG>TT; p.G707F; 3:184292146-184292147	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1295G>A; p.G432E; 3:184289444-184289444	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1113_1114CC>TT; p.(=); 3:184285529-184285530	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.2127C>G; p.L709L; 3:184292154-184292154	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1882C>T; p.R628C; 3:184291174-184291174	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1200C>A; p.T400T; 3:184287860-184287860	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.667G>A; p.D223N; 3:184278495-184278495	skin	malignant_melanoma	Substitution - Missense
c.1914C>T; p.N638N; 3:184291206-184291206	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1468G>A; p.E490K; 3:184290258-184290258	skin	malignant_melanoma	Substitution - Missense
c.1468G>A; p.E490K; 3:184290258-184290258	skin	malignant_melanoma	Substitution - Missense
c.1468G>A; p.E490K; 3:184290258-184290258	skin	malignant_melanoma	Substitution - Missense
c.1468G>A; p.E490K; 3:184290258-184290258	skin	malignant_melanoma	Substitution - Missense
c.2027T>C; p.F676S; 3:184291432-184291432	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1412G>A; p.G471D; 3:184289666-184289666	skin	malignant_melanoma	Substitution - Missense
c.583G>T; p.A195S; 3:184278233-184278233	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.282C>A; p.F94L; 3:184277357-184277357	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.282C>A; p.F94L; 3:184277357-184277357	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1837G>T; p.E613*; 3:184291129-184291129	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.392-1G>C; p.?; 3:184277924-184277924	pleura	pulmonary_blastoma	Unknown
c.1597G>A; p.A533T; 3:184290585-184290585	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.936G>T; p.M312I; 3:184284980-184284980	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.448C>T; p.L150L; 3:184277981-184277981	skin	malignant_melanoma	Substitution - coding silent
c.371C>A; p.A124D; 3:184277446-184277446	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.371C>A; p.A124D; 3:184277446-184277446	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.448C>T; p.L150L; 3:184277981-184277981	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.311_312CC>TT; p.P104L; 3:184277386-184277387	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2023G>A; p.G675R; 3:184291428-184291428	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1717C>A; p.H573N; 3:184290830-184290830	skin; acral	malignant_melanoma	Substitution - Missense
c.1450G>A; p.D484N; 3:184289704-184289704	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.871C>T; p.R291C; 3:184283926-184283926	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.80G>A; p.R27H; 3:184276932-184276932	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2111G>A; p.R704H; 3:184292138-184292138	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.357G>A; p.W119*; 3:184277432-184277432	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.503A>C; p.D168A; 3:184278036-184278036	skin	malignant_melanoma	Substitution - Missense
c.1552C>A; p.P518T; 3:184290342-184290342	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma	Substitution - Missense
c.956C>T; p.S319F; 3:184285000-184285000	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1061G>T; p.S354I; 3:184285105-184285105	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.971C>T; p.P324L; 3:184285015-184285015	skin	malignant_melanoma	Substitution - Missense
c.757G>A; p.E253K; 3:184283812-184283812	skin	malignant_melanoma	Substitution - Missense
c.465G>A; p.V155V; 3:184277998-184277998	skin	malignant_melanoma	Substitution - coding silent
c.630C>T; p.A210A; 3:184278280-184278280	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1101G>C; p.K367N; 3:184285517-184285517	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1805C>T; p.A602V; 3:184291097-184291097	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.826T>A; p.L276M; 3:184283881-184283881	pancreas	carcinoma	Substitution - Missense
c.1106C>T; p.T369I; 3:184285522-184285522	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1036G>A; p.E346K; 3:184285080-184285080	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1121G>A; p.R374Q; 3:184285537-184285537	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1026G>A; p.Q342Q; 3:184285070-184285070	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.840G>A; p.L280L; 3:184283895-184283895	stomach	adenocarcinoma	Substitution - coding silent
c.1271G>A; p.R424Q; 3:184287931-184287931	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.797C>T; p.T266M; 3:184283852-184283852	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1003G>A; p.V335M; 3:184285047-184285047	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2112C>T; p.R704R; 3:184292139-184292139	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2050C>T; p.R684C; 3:184292077-184292077	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.2112C>T; p.R704R; 3:184292139-184292139	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2135C>T; p.S712F; 3:184292162-184292162	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2169C>T; p.V723V; 3:184292196-184292196	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1869G>C; p.E623D; 3:184291161-184291161	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2145C>T; p.F715F; 3:184292172-184292172	skin	malignant_melanoma	Substitution - coding silent
c.1889C>T; p.T630M; 3:184291181-184291181	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.248G>A; p.R83Q; 3:184277323-184277323	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1727C>T; p.T576M; 3:184290840-184290840	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.2189G>A; p.G730E; 3:184292216-184292216	skin	malignant_melanoma	Substitution - Missense
c.399C>T; p.T133T; 3:184277932-184277932	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1899G>A; p.E633E; 3:184291191-184291191	skin	malignant_melanoma	Substitution - coding silent
c.985G>A; p.D329N; 3:184285029-184285029	urinary_tract; bladder	carcinoma	Substitution - Missense
c.325C>T; p.R109C; 3:184277400-184277400	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1158C>T; p.T386T; 3:184285574-184285574	skin	malignant_melanoma	Substitution - coding silent
c.360C>T; p.D120D; 3:184277435-184277435	skin; arm	malignant_melanoma	Substitution - coding silent
c.1062C>T; p.S354S; 3:184285478-184285478	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.490C>A; p.Q164K; 3:184278023-184278023	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1988C>T; p.A663V; 3:184291393-184291393	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation