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	3953
Symbol	LEPR
Synonymous	CD295\|LEP-R\|LEPRD\|OB-R\|OBR
Full name	leptin receptor
Gene description	OB receptor\|huB219
Cytoband	1p31
Gene type	protein-coding
Synonymous	MIM:601007; HGNC:HGNC:6554; Ensembl:ENSG00000116678; HPRD:03001; Vega:OTTHUMG00000009115

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1034G>T; p.G345V; 1:65601431-65601431	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2055T>G; p.T685T; 1:65616067-65616067	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.2479A>C; p.S827R; 1:65620011-65620011	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.866C>T; p.S289L; 1:65598676-65598676	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2156C>T; p.S719L; 1:65616168-65616168	skin	malignant_melanoma	Substitution - Missense
c.2030A>T; p.Q677L; 1:65616042-65616042	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.101A>C; p.K34T; 1:65570533-65570533	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2156C>T; p.S719L; 1:65616168-65616168	skin	malignant_melanoma	Substitution - Missense
c.438A>G; p.S146S; 1:65572393-65572393	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1039A>G; p.N347D; 1:65601436-65601436	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.179C>T; p.S60L; 1:65570611-65570611	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.2391C>T; p.I797I; 1:65618142-65618142	skin	malignant_melanoma	Substitution - coding silent
c.1987C>T; p.L663F; 1:65610288-65610288	skin	malignant_melanoma	Substitution - Missense
c.1182C>T; p.F394F; 1:65601579-65601579	pancreas	carcinoma	Substitution - coding silent
c.41-1G>T; p.?; 1:65570472-65570472	large_intestine; rectum	carcinoma; adenocarcinoma	Unknown
c.41-1G>T; p.?; 1:65570472-65570472	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2679G>T; p.T893T; 1:65633157-65633157	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1971G>A; p.E657E; 1:65610272-65610272	skin	malignant_melanoma	Substitution - coding silent
c.276G>T; p.R92R; 1:65570708-65570708	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.955T>G; p.W319G; 1:65598765-65598765	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.719C>T; p.P240L; 1:65596463-65596463	breast	carcinoma	Substitution - Missense
c.464A>T; p.Y155F; 1:65572419-65572419	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.294C>T; p.N98N; 1:65570726-65570726	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.490G>T; p.V164F; 1:65572445-65572445	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2408C>A; p.P803H; 1:65619940-65619940	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1674G>A; p.W558*; 1:65608823-65608823	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1187T>C; p.L396P; 1:65601584-65601584	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1977T>C; p.N659N; 1:65610278-65610278	skin	malignant_melanoma	Substitution - coding silent
c.1296C>T; p.I432I; 1:65601853-65601853	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2171T>C; p.V724A; 1:65616183-65616183	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1512C>T; p.F504F; 1:65605146-65605146	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1389A>T; p.Q463H; 1:65601946-65601946	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1804G>T; p.D602Y; 1:65609998-65609998	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.41-1G>A; p.?; 1:65570472-65570472	skin; head_neck	carcinoma; squamous_cell_carcinoma	Unknown
c.1286-1G>T; p.?; 1:65601842-65601842	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.1520C>T; p.S507F; 1:65605154-65605154	skin	malignant_melanoma	Substitution - Missense
c.2656G>T; p.G886*; 1:65622964-65622964	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1894_1895insT; p.V633fs*12; 1:65610088-65610089	lung	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2628G>A; p.P876P; 1:65622936-65622936	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2374G>C; p.V792L; 1:65618125-65618125	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.370G>T; p.D124Y; 1:65570802-65570802	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.64T>C; p.F22L; 1:65570496-65570496	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.314A>C; p.N105T; 1:65570746-65570746	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.152C>A; p.A51D; 1:65570584-65570584	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2051A>C; p.H684P; 1:65616063-65616063	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2292T>G; p.D764E; 1:65618043-65618043	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.3G>T; p.M1I; 1:65565568-65565568	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2678C>T; p.T893M; 1:65633156-65633156	breast	carcinoma	Substitution - Missense
c.2335G>A; p.E779K; 1:65618086-65618086	skin	malignant_melanoma	Substitution - Missense
c.290G>C; p.R97T; 1:65570722-65570722	breast	carcinoma	Substitution - Missense
c.1084C>T; p.P362S; 1:65601481-65601481	skin	malignant_melanoma	Substitution - Missense
c.95G>T; p.R32I; 1:65570527-65570527	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.290G>T; p.R97I; 1:65570722-65570722	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2149A>T; p.I717F; 1:65616161-65616161	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2284delC; p.S763fs*5; 1:65618035-65618035	breast	carcinoma	Deletion - Frameshift
c.180G>A; p.S60S; 1:65570612-65570612	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1042G>C; p.V348L; 1:65601439-65601439	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2015C>A; p.S672*; 1:65616027-65616027	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2578T>A; p.L860I; 1:65621439-65621439	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.553C>T; p.H185Y; 1:65592715-65592715	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2459G>A; p.G820E; 1:65619991-65619991	skin	malignant_melanoma	Substitution - Missense
c.1988T>G; p.L663R; 1:65610289-65610289	skin	malignant_melanoma	Substitution - Missense
c.745G>A; p.D249N; 1:65596489-65596489	skin	malignant_melanoma	Substitution - Missense
c.712G>A; p.D238N; 1:65596456-65596456	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1887C>T; p.A629A; 1:65610081-65610081	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2465C>A; p.P822Q; 1:65619997-65619997	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1887C>T; p.A629A; 1:65610081-65610081	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2223G>T; p.V741V; 1:65617974-65617974	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1630A>G; p.K544E; 1:65608779-65608779	urinary_tract; bladder	carcinoma	Substitution - Missense
c.227G>A; p.G76D; 1:65570659-65570659	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.141C>T; p.F47F; 1:65570573-65570573	skin	malignant_melanoma	Substitution - coding silent
c.2494G>A; p.D832N; 1:65621355-65621355	skin	malignant_melanoma	Substitution - Missense
c.2059T>G; p.C687G; 1:65616071-65616071	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1059C>T; p.I353I; 1:65601456-65601456	skin	malignant_melanoma	Substitution - coding silent
c.2608C>T; p.L870L; 1:65622916-65622916	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.976C>T; p.R326C; 1:65598786-65598786	skin	malignant_melanoma	Substitution - Missense
c.1340G>A; p.C447Y; 1:65601897-65601897	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2309T>G; p.F770C; 1:65618060-65618060	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2138C>T; p.T713M; 1:65616150-65616150	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1129C>T; p.P377S; 1:65601526-65601526	skin; extremity	malignant_melanoma	Substitution - Missense
c.1053C>T; p.H351H; 1:65601450-65601450	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1129C>T; p.P377S; 1:65601526-65601526	skin	malignant_melanoma	Substitution - Missense
c.1261C>T; p.R421C; 1:65601658-65601658	skin	malignant_melanoma	Substitution - Missense
c.2598-1G>A; p.?; 1:65622905-65622905	skin	malignant_melanoma	Unknown
c.1968G>C; p.K656N; 1:65610269-65610269	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1342A>T; p.R448*; 1:65601899-65601899	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1968G>C; p.K656N; 1:65610269-65610269	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.72G>T; p.L24F; 1:65570504-65570504	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2015C>T; p.S672L; 1:65616027-65616027	breast	carcinoma	Substitution - Missense
c.2087G>A; p.G696E; 1:65616099-65616099	skin	malignant_melanoma	Substitution - Missense
c.580T>G; p.C194G; 1:65592742-65592742	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2660T>C; p.L887P; 1:65622968-65622968	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.1889A>T; p.Y630F; 1:65610083-65610083	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.191A>T; p.Y64F; 1:65570623-65570623	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1962G>A; p.M654I; 1:65610263-65610263	skin	malignant_melanoma	Substitution - Missense
c.3G>A; p.M1I; 1:65565568-65565568	skin	malignant_melanoma	Substitution - Missense
c.3G>A; p.M1I; 1:65565568-65565568	stomach	carcinoma; diffuse_adenocarcinoma	Substitution - Missense
c.1784C>A; p.S595Y; 1:65609978-65609978	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.2440A>C; p.I814L; 1:65619972-65619972	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1270G>T; p.E424*; 1:65601667-65601667	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2552C>T; p.S851F; 1:65621413-65621413	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2552C>T; p.S851F; 1:65621413-65621413	skin	malignant_melanoma	Substitution - Missense
c.767C>A; p.S256Y; 1:65596511-65596511	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1628T>C; p.V543A; 1:65608777-65608777	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.767C>A; p.S256Y; 1:65596511-65596511	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.201T>G; p.A67A; 1:65570633-65570633	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1798G>T; p.V600F; 1:65609992-65609992	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1399C>A; p.H467N; 1:65601956-65601956	pancreas	carcinoma	Substitution - Missense
c.1429C>A; p.P477T; 1:65605063-65605063	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.736G>A; p.E246K; 1:65596480-65596480	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1951G>C; p.G651R; 1:65610252-65610252	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1029T>C; p.S343S; 1:65601426-65601426	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2636A>C; p.K879T; 1:65622944-65622944	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2601G>A; p.M867I; 1:65622909-65622909	skin	malignant_melanoma	Substitution - Missense
c.195G>C; p.E65D; 1:65570627-65570627	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.776G>T; p.S259I; 1:65596520-65596520	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1970A>T; p.E657V; 1:65610271-65610271	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.526C>T; p.P176S; 1:65592688-65592688	skin	malignant_melanoma	Substitution - Missense
c.1915C>T; p.P639S; 1:65610216-65610216	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1761G>A; p.E587E; 1:65609955-65609955	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.2484C>T; p.F828F; 1:65620016-65620016	breast	carcinoma	Substitution - coding silent
c.1710C>A; p.F570L; 1:65608859-65608859	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1883C>A; p.P628Q; 1:65610077-65610077	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1262G>A; p.R421H; 1:65601659-65601659	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.511G>A; p.D171N; 1:65592673-65592673	breast	carcinoma	Substitution - Missense
c.2395+1G>T; p.?; 1:65618147-65618147	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.1106G>A; p.W369*; 1:65601503-65601503	skin	malignant_melanoma	Substitution - Nonsense
c.2534T>C; p.I845T; 1:65621395-65621395	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.866C>G; p.S289*; 1:65598676-65598676	breast	carcinoma	Substitution - Nonsense
c.1733G>A; p.G578E; 1:65608882-65608882	skin	malignant_melanoma	Substitution - Missense
c.2139G>A; p.T713T; 1:65616151-65616151	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1495_1496insT; p.Q501fs*14; 1:65605129-65605130	large_intestine	carcinoma; adenocarcinoma	Insertion - Frameshift
c.2016A>G; p.S672S; 1:65616028-65616028	liver	carcinoma	Substitution - coding silent
c.1542G>T; p.R514S; 1:65605176-65605176	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2601G>T; p.M867I; 1:65622909-65622909	autonomic_ganglia	neuroblastoma	Substitution - Missense
c.2046C>T; p.N682N; 1:65616058-65616058	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1785T>G; p.S595S; 1:65609979-65609979	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2220C>T; p.I740I; 1:65617971-65617971	skin	malignant_melanoma	Substitution - coding silent
c.209C>G; p.P70R; 1:65570641-65570641	skin	malignant_melanoma	Substitution - Missense
c.2220C>T; p.I740I; 1:65617971-65617971	skin	malignant_melanoma	Substitution - coding silent
c.2220C>T; p.I740I; 1:65617971-65617971	skin	malignant_melanoma	Substitution - coding silent
c.2220C>T; p.I740I; 1:65617971-65617971	skin	malignant_melanoma	Substitution - coding silent
c.343G>A; p.V115I; 1:65570775-65570775	breast	carcinoma	Substitution - Missense
c.2220C>T; p.I740I; 1:65617971-65617971	skin	malignant_melanoma	Substitution - coding silent
c.950G>A; p.G317E; 1:65598760-65598760	skin; mucosal	malignant_melanoma	Substitution - Missense
c.2480delG; p.S827fs*18; 1:65620012-65620012	lung	carcinoma; adenocarcinoma	Deletion - Frameshift
c.593T>C; p.V198A; 1:65592755-65592755	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.745G>T; p.D249Y; 1:65596489-65596489	biliary_tract; bile_duct	carcinoma; adenocarcinoma	Substitution - Missense
c.2539C>T; p.P847S; 1:65621400-65621400	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2679G>A; p.T893T; 1:65633157-65633157	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1448C>A; p.S483Y; 1:65605082-65605082	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1033G>T; p.G345W; 1:65601430-65601430	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.668A>G; p.Q223R; 1:65592830-65592830	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.668A>G; p.Q223R; 1:65592830-65592830	thyroid	other; neoplasm	Substitution - Missense
c.1258C>T; p.H420Y; 1:65601655-65601655	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.921G>A; p.Q307Q; 1:65598731-65598731	skin	malignant_melanoma	Substitution - coding silent
c.1046C>G; p.S349C; 1:65601443-65601443	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1046C>G; p.S349C; 1:65601443-65601443	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.898C>T; p.P300S; 1:65598708-65598708	skin	malignant_melanoma	Substitution - Missense
c.909G>T; p.S303S; 1:65598719-65598719	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1024A>G; p.T342A; 1:65601421-65601421	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1204C>T; p.R402*; 1:65601601-65601601	skin	malignant_melanoma	Substitution - Nonsense
c.1204C>T; p.R402*; 1:65601601-65601601	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1204C>T; p.R402*; 1:65601601-65601601	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1204C>T; p.R402*; 1:65601601-65601601	large_intestine; colon	carcinoma	Substitution - Nonsense
c.1204C>T; p.R402*; 1:65601601-65601601	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.607G>A; p.A203T; 1:65592769-65592769	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.607G>A; p.A203T; 1:65592769-65592769	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1828C>T; p.Q610*; 1:65610022-65610022	skin	malignant_melanoma	Substitution - Nonsense
c.773C>T; p.S258F; 1:65596517-65596517	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.655G>T; p.G219*; 1:65592817-65592817	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; plasma_cell_myeloma	Substitution - Nonsense
c.958A>G; p.S320G; 1:65598768-65598768	central_nervous_system; brain	primitive_neuroectodermal_tumour-medulloblastoma	Substitution - Missense
c.825G>A; p.E275E; 1:65596569-65596569	skin	malignant_melanoma	Substitution - coding silent
c.1834C>T; p.R612C; 1:65610028-65610028	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.475G>A; p.V159I; 1:65572430-65572430	skin	malignant_melanoma	Substitution - Missense
c.1968_1969GG>AA; p.E657K; 1:65610269-65610270	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1163T>G; p.V388G; 1:65601560-65601560	oesophagus; lower_third	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2402T>G; p.F801C; 1:65619934-65619934	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2235T>C; p.S745S; 1:65617986-65617986	oesophagus	carcinoma	Substitution - coding silent
c.790C>T; p.P264S; 1:65596534-65596534	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2402T>G; p.F801C; 1:65619934-65619934	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.908C>T; p.S303L; 1:65598718-65598718	skin; neck	malignant_melanoma	Substitution - Missense
c.254C>T; p.T85I; 1:65570686-65570686	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.1390T>A; p.L464M; 1:65601947-65601947	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1347G>A; p.W449*; 1:65601904-65601904	skin	malignant_melanoma	Substitution - Nonsense
c.370+5G>A; p.?; 1:65570807-65570807	large_intestine; colon	carcinoma; adenocarcinoma	Unknown
c.2278C>G; p.L760V; 1:65618029-65618029	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1844G>A; p.R615K; 1:65610038-65610038	skin	malignant_melanoma	Substitution - Missense
c.2553C>T; p.S851S; 1:65621414-65621414	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1551_1554delCTCT; p.S518fs*1; 1:65605185-65605188	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.2673G>T; p.K891N; 1:65622981-65622981	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1749G>A; p.W583*; 1:65608898-65608898	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.111C>A; p.C37*; 1:65570543-65570543	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.546G>A; p.Q182Q; 1:65592708-65592708	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.2273G>A; p.W758*; 1:65618024-65618024	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2175A>G; p.A725A; 1:65616187-65616187	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1818C>T; p.V606V; 1:65610012-65610012	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.2538G>A; p.V846V; 1:65621399-65621399	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2023A>T; p.S675C; 1:65616035-65616035	stomach	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation