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	8745
Symbol	ADAM23
Synonymous	MDC-3\|MDC3
Full name	ADAM metallopeptidase domain 23
Gene description	disintegrin and metalloproteinase domain-containing protein 23\|metalloproteinase-like, disintegrin-like, and cysteine-rich protein 3
Cytoband	2q33
Gene type	protein-coding
Synonymous	MIM:603710; HGNC:HGNC:202; Ensembl:ENSG00000114948; HPRD:04752; Vega:OTTHUMG00000132919

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.1906G>A; p.E636K; 2:206589462-206589462	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1399T>C; p.S467P; 2:206567227-206567227	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1635C>A; p.C545*; 2:206571795-206571795	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1358C>A; p.T453K; 2:206565032-206565032	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.458T>G; p.F153C; 2:206481257-206481257	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.875G>A; p.R292H; 2:206550102-206550102	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.463A>G; p.I155V; 2:206481262-206481262	prostate	carcinoma	Substitution - Missense
c.1279C>A; p.Q427K; 2:206562227-206562227	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.894G>A; p.M298I; 2:206550121-206550121	skin	malignant_melanoma	Substitution - Missense
c.612C>T; p.G204G; 2:206542090-206542090	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.612C>T; p.G204G; 2:206542090-206542090	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.894G>A; p.M298I; 2:206550121-206550121	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.894G>A; p.M298I; 2:206550121-206550121	skin	malignant_melanoma	Substitution - Missense
c.2135C>T; p.T712M; 2:206594793-206594793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2135C>T; p.T712M; 2:206594793-206594793	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.894G>A; p.M298I; 2:206550121-206550121	skin	malignant_melanoma	Substitution - Missense
c.851G>A; p.R284K; 2:206548338-206548338	skin	malignant_melanoma	Substitution - Missense
c.1078G>C; p.D360H; 2:206560027-206560027	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2215G>A; p.D739N; 2:206594873-206594873	skin	malignant_melanoma	Substitution - Missense
c.1459G>A; p.G487R; 2:206567287-206567287	liver	carcinoma	Substitution - Missense
c.1459G>A; p.G487R; 2:206567287-206567287	liver	carcinoma	Substitution - Missense
c.1133G>A; p.R378H; 2:206560082-206560082	skin	malignant_melanoma	Substitution - Missense
c.681C>A; p.F227L; 2:206543277-206543277	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1773A>G; p.A591A; 2:206587360-206587360	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; essential_thrombocythaemia	Substitution - coding silent
c.1040T>C; p.L347P; 2:206559989-206559989	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.658G>C; p.G220R; 2:206543254-206543254	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1040T>C; p.L347P; 2:206559989-206559989	large_intestine; colon	carcinoma	Substitution - Missense
c.1040T>C; p.L347P; 2:206559989-206559989	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1704T>C; p.D568D; 2:206573162-206573162	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1364C>A; p.S455Y; 2:206565038-206565038	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.2045C>T; p.S682F; 2:206592703-206592703	skin	malignant_melanoma	Substitution - Missense
c.214+6T>C; p.?; 2:206444086-206444086	liver	carcinoma	Unknown
c.1418C>T; p.S473L; 2:206567246-206567246	breast	carcinoma	Substitution - Missense
c.1408C>T; p.R470*; 2:206567236-206567236	stomach	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2137C>T; p.P713S; 2:206594795-206594795	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1408C>T; p.R470*; 2:206567236-206567236	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.217C>T; p.P73S; 2:206445309-206445309	skin	malignant_melanoma	Substitution - Missense
c.2472C>A; p.F824L; 2:206617600-206617600	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2136G>A; p.T712T; 2:206594794-206594794	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2136G>A; p.T712T; 2:206594794-206594794	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.622T>C; p.S208P; 2:206542100-206542100	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1255T>C; p.Y419H; 2:206562203-206562203	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1328C>T; p.P443L; 2:206562276-206562276	skin	malignant_melanoma	Substitution - Missense
c.969C>A; p.N323K; 2:206557462-206557462	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.469G>A; p.A157T; 2:206481268-206481268	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.1362A>C; p.E454D; 2:206565036-206565036	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.857G>T; p.R286I; 2:206548344-206548344	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.469G>A; p.A157T; 2:206481268-206481268	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.2148G>A; p.P716P; 2:206594806-206594806	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2085C>T; p.A695A; 2:206594743-206594743	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.2335_2336CC>TT; p.P779F; 2:206596138-206596139	skin	malignant_melanoma	Substitution - Missense
c.843G>A; p.L281L; 2:206548330-206548330	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.383C>T; p.P128L; 2:206445475-206445475	skin	malignant_melanoma	Substitution - Missense
c.378A>C; p.E126D; 2:206445470-206445470	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1613C>A; p.A538D; 2:206571773-206571773	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2229A>C; p.K743N; 2:206594887-206594887	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.2285C>T; p.T762I; 2:206596088-206596088	skin	malignant_melanoma	Substitution - Missense
c.2078G>C; p.S693T; 2:206592736-206592736	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1554T>C; p.C518C; 2:206570799-206570799	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.855G>T; p.K285N; 2:206548342-206548342	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1682G>A; p.R561Q; 2:206573140-206573140	ovary	other; neoplasm	Substitution - Missense
c.394C>A; p.L132I; 2:206445486-206445486	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1737G>T; p.Q579H; 2:206573195-206573195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1355G>C; p.C452S; 2:206565029-206565029	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.764G>A; p.G255E; 2:206547472-206547472	skin	malignant_melanoma	Substitution - Missense
c.1844G>C; p.W615S; 2:206588146-206588146	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1707T>C; p.I569I; 2:206573165-206573165	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1530G>T; p.V510V; 2:206570775-206570775	breast	carcinoma	Substitution - coding silent
c.778C>A; p.Q260K; 2:206547486-206547486	haematopoietic_and_lymphoid_tissue; lymph_node	lymphoid_neoplasm; follicular_lymphoma	Substitution - Missense
c.682G>A; p.V228M; 2:206543278-206543278	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.682G>A; p.V228M; 2:206543278-206543278	liver	carcinoma	Substitution - Missense
c.656+1G>A; p.?; 2:206542135-206542135	breast	carcinoma	Unknown
c.919A>G; p.N307D; 2:206550146-206550146	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.347G>T; p.R116I; 2:206445439-206445439	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1409G>A; p.R470Q; 2:206567237-206567237	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.676A>G; p.T226A; 2:206543272-206543272	stomach	adenocarcinoma	Substitution - Missense
c.1409G>A; p.R470Q; 2:206567237-206567237	skin	malignant_melanoma	Substitution - Missense
c.2337C>A; p.P779P; 2:206596140-206596140	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.14G>A; p.G5D; 2:206443880-206443880	liver	carcinoma	Substitution - Missense
c.2382A>G; p.I794M; 2:206609932-206609932	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.14G>A; p.G5D; 2:206443880-206443880	liver	carcinoma	Substitution - Missense
c.1349G>A; p.C450Y; 2:206565023-206565023	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.600A>G; p.G200G; 2:206542078-206542078	breast	carcinoma	Substitution - coding silent
c.1373G>A; p.G458D; 2:206565047-206565047	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1171C>T; p.R391W; 2:206561129-206561129	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1734T>C; p.G578G; 2:206573192-206573192	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1734T>C; p.G578G; 2:206573192-206573192	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1577G>A; p.G526E; 2:206571737-206571737	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1609G>A; p.G537R; 2:206571769-206571769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1139A>T; p.K380M; 2:206560088-206560088	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1139A>T; p.K380M; 2:206560088-206560088	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1609G>A; p.G537R; 2:206571769-206571769	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2011A>G; p.I671V; 2:206592669-206592669	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1139A>T; p.K380M; 2:206560088-206560088	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1455G>A; p.Q485Q; 2:206567283-206567283	skin	malignant_melanoma	Substitution - coding silent
c.1901G>A; p.G634D; 2:206589457-206589457	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.711T>C; p.V237V; 2:206543307-206543307	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1409G>T; p.R470L; 2:206567237-206567237	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.303C>T; p.I101I; 2:206445395-206445395	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.852G>A; p.R284R; 2:206548339-206548339	skin; leg	malignant_melanoma; superficial_spreading	Substitution - coding silent
c.374C>T; p.S125L; 2:206445466-206445466	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2470T>C; p.F824L; 2:206617598-206617598	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1875C>A; p.F625L; 2:206589431-206589431	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1688C>T; p.A563V; 2:206573146-206573146	skin	malignant_melanoma	Substitution - Missense
c.2311C>T; p.R771W; 2:206596114-206596114	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.874C>T; p.R292C; 2:206550101-206550101	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2132G>A; p.G711E; 2:206594790-206594790	NS	malignant_melanoma	Substitution - Missense
c.1443A>T; p.R481S; 2:206567271-206567271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2132G>A; p.G711E; 2:206594790-206594790	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm; hairy_cell_leukaemia	Substitution - Missense
c.898T>A; p.Y300N; 2:206550125-206550125	skin	malignant_melanoma	Substitution - Missense
c.1627G>T; p.G543W; 2:206571787-206571787	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1318C>T; p.Q440*; 2:206562266-206562266	skin	malignant_melanoma	Substitution - Nonsense
c.864G>T; p.V288V; 2:206548351-206548351	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.2295G>A; p.G765G; 2:206596098-206596098	skin	malignant_melanoma	Substitution - coding silent
c.1323G>A; p.W441*; 2:206562271-206562271	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.2473G>A; p.D825N; 2:206617601-206617601	skin	malignant_melanoma	Substitution - Missense
c.2334delC; p.K781fs*14; 2:206596137-206596137	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.947G>A; p.R316H; 2:206557440-206557440	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.2334delC; p.K781fs*14; 2:206596137-206596137	large_intestine; caecum	carcinoma; adenocarcinoma	Deletion - Frameshift
c.681C>G; p.F227L; 2:206543277-206543277	skin	malignant_melanoma	Substitution - Missense
c.414C>G; p.H138Q; 2:206445506-206445506	central_nervous_system; brain	glioma	Substitution - Missense
c.367C>G; p.Q123E; 2:206445459-206445459	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.471C>T; p.A157A; 2:206481270-206481270	skin	malignant_melanoma	Substitution - coding silent
c.2334delC; p.K781fs*14; 2:206596137-206596137	stomach	carcinoma; intestinal_adenocarcinoma	Deletion - Frameshift
c.1789-1G>T; p.?; 2:206588090-206588090	lung	carcinoma; adenocarcinoma	Unknown
c.1850C>A; p.T617K; 2:206588152-206588152	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1229G>A; p.R410H; 2:206561187-206561187	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.868-2A>G; p.?; 2:206550093-206550093	kidney	other; neoplasm	Unknown
c.1237G>T; p.G413*; 2:206561195-206561195	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1237G>T; p.G413*; 2:206561195-206561195	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1237G>T; p.G413*; 2:206561195-206561195	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.607A>G; p.R203G; 2:206542085-206542085	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1852+1G>A; p.?; 2:206588155-206588155	lung	carcinoma; squamous_cell_carcinoma	Unknown
c.1364C>T; p.S455F; 2:206565038-206565038	skin	malignant_melanoma	Substitution - Missense
c.2482C>A; p.Q828K; 2:206617610-206617610	breast	carcinoma	Substitution - Missense
c.1780C>G; p.Q594E; 2:206587367-206587367	urinary_tract; bladder	carcinoma	Substitution - Missense
c.739C>A; p.H247N; 2:206547447-206547447	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2472C>T; p.F824F; 2:206617600-206617600	prostate	carcinoma	Substitution - coding silent
c.631G>A; p.A211T; 2:206542109-206542109	genital_tract; extragonadal	germ_cell_tumour; mixed	Substitution - Missense
c.1726G>T; p.D576Y; 2:206573184-206573184	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1624G>A; p.D542N; 2:206571784-206571784	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1120A>G; p.K374E; 2:206560069-206560069	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.328G>T; p.E110*; 2:206445420-206445420	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1140G>T; p.K380N; 2:206560089-206560089	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.733C>T; p.R245*; 2:206547441-206547441	lung	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.2132G>T; p.G711V; 2:206594790-206594790	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1274T>C; p.V425A; 2:206562222-206562222	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1631C>T; p.P544L; 2:206571791-206571791	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1631C>T; p.P544L; 2:206571791-206571791	upper_aerodigestive_tract; mouth	carcinoma	Substitution - Missense
c.1732G>T; p.G578C; 2:206573190-206573190	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1585T>C; p.C529R; 2:206571745-206571745	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2146C>T; p.P716S; 2:206594804-206594804	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2169G>A; p.R723R; 2:206594827-206594827	skin	malignant_melanoma	Substitution - coding silent
c.932C>T; p.T311M; 2:206550159-206550159	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.2454T>C; p.N818N; 2:206617582-206617582	pancreas	carcinoma	Substitution - coding silent
c.1675G>A; p.E559K; 2:206573133-206573133	skin	malignant_melanoma	Substitution - Missense
c.218C>T; p.P73L; 2:206445310-206445310	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1608C>T; p.N536N; 2:206571768-206571768	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.2071G>C; p.D691H; 2:206592729-206592729	ovary	other; neoplasm	Substitution - Missense
c.1609G>T; p.G537W; 2:206571769-206571769	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1609G>T; p.G537W; 2:206571769-206571769	large_intestine; colon	carcinoma	Substitution - Missense
c.279G>A; p.L93L; 2:206445371-206445371	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - coding silent
c.1853-1G>A; p.?; 2:206589408-206589408	skin; scalp	malignant_melanoma	Unknown
c.1853-1G>A; p.?; 2:206589408-206589408	skin	malignant_melanoma	Unknown
c.2128G>C; p.D710H; 2:206594786-206594786	urinary_tract; bladder	carcinoma	Substitution - Missense
c.934-9C>T; p.?; 2:206557418-206557418	pancreas	carcinoma	Unknown
c.681C>T; p.F227F; 2:206543277-206543277	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.375G>A; p.S125S; 2:206445467-206445467	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.375G>A; p.S125S; 2:206445467-206445467	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.2052C>T; p.Y684Y; 2:206592710-206592710	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1334G>A; p.S445N; 2:206562282-206562282	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1196G>A; p.S399N; 2:206561154-206561154	pancreas	carcinoma	Substitution - Missense
c.1290G>A; p.S430S; 2:206562238-206562238	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.514T>G; p.L172V; 2:206530889-206530889	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.788A>T; p.N263I; 2:206547496-206547496	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1418C>A; p.S473*; 2:206567246-206567246	breast	carcinoma	Substitution - Nonsense
c.2192T>C; p.L731P; 2:206594850-206594850	pleura	pulmonary_blastoma	Substitution - Missense
c.983C>T; p.S328F; 2:206557476-206557476	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.983C>T; p.S328F; 2:206557476-206557476	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.2283C>T; p.F761F; 2:206596086-206596086	skin	malignant_melanoma	Substitution - coding silent
c.656A>G; p.H219R; 2:206542134-206542134	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1666C>T; p.R556*; 2:206573124-206573124	pancreas	carcinoma	Substitution - Nonsense
c.266A>C; p.E89A; 2:206445358-206445358	meninges	meningioma	Substitution - Missense
c.1919G>A; p.C640Y; 2:206589475-206589475	NS	NS	Substitution - Missense
c.2230G>T; p.V744F; 2:206594888-206594888	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1735C>G; p.Q579E; 2:206573193-206573193	urinary_tract; bladder	carcinoma	Substitution - Missense
c.2493C>A; p.P831P; 2:206617621-206617621	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.1926G>A; p.K642K; 2:206589482-206589482	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1265C>A; p.P422Q; 2:206562213-206562213	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.540T>C; p.I180I; 2:206530915-206530915	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.540T>C; p.I180I; 2:206530915-206530915	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1289C>T; p.S430L; 2:206562237-206562237	skin	malignant_melanoma	Substitution - Missense
c.1320A>T; p.Q440H; 2:206562268-206562268	lung; right_upper_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1320A>T; p.Q440H; 2:206562268-206562268	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.148C>A; p.L50I; 2:206444014-206444014	adrenal_gland; adrenal_gland	adrenal_cortical_carcinoma; functioning	Substitution - Missense
c.2252G>T; p.C751F; 2:206596055-206596055	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.2271C>A; p.C757*; 2:206596074-206596074	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.878G>A; p.G293D; 2:206550105-206550105	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.490C>A; p.L164I; 2:206481289-206481289	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1543G>T; p.E515*; 2:206570788-206570788	liver	carcinoma	Substitution - Nonsense
c.2128G>A; p.D710N; 2:206594786-206594786	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1543G>T; p.E515*; 2:206570788-206570788	liver	carcinoma; hepatocellular_carcinoma	Substitution - Nonsense
c.1746A>T; p.P582P; 2:206587333-206587333	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.2026G>A; p.G676S; 2:206592684-206592684	skin	malignant_melanoma	Substitution - Missense
c.1953_1956delCAAA; p.K652fs*37; 2:206589509-206589512	endometrium	carcinoma; endometrioid_carcinoma	Deletion - Frameshift
c.2026G>A; p.G676S; 2:206592684-206592684	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1494G>T; p.K498N; 2:206567322-206567322	breast	carcinoma	Substitution - Missense
c.793+3_793+4AA>GG; p.?; 2:206547504-206547505	skin	malignant_melanoma	Unknown
c.793+3_793+4AA>GG; p.?; 2:206547504-206547505	skin	malignant_melanoma	Unknown
c.1527C>G; p.Y509*; 2:206570772-206570772	lung	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1735C>T; p.Q579*; 2:206573193-206573193	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.239delA; p.N82fs*87; 2:206445331-206445331	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1508C>T; p.T503M; 2:206570753-206570753	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.750G>C; p.Q250H; 2:206547458-206547458	NS	NS	Substitution - Missense
c.239delA; p.N82fs*87; 2:206445331-206445331	oesophagus	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1359A>C; p.T453T; 2:206565033-206565033	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.381C>T; p.S127S; 2:206445473-206445473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.381C>T; p.S127S; 2:206445473-206445473	skin	malignant_melanoma	Substitution - coding silent
c.1732G>A; p.G578S; 2:206573190-206573190	ovary	carcinoma; serous_carcinoma	Substitution - Missense
c.194delG; p.A67fs*102; 2:206444060-206444060	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.1658T>G; p.F553C; 2:206573116-206573116	skin	malignant_melanoma	Substitution - Missense
c.560C>A; p.P187Q; 2:206530935-206530935	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.2264C>A; p.A755D; 2:206596067-206596067	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.2334_2335insC; p.K781fs*3; 2:206596137-206596138	stomach	adenocarcinoma	Insertion - Frameshift
c.2334_2335insC; p.K781fs*3; 2:206596137-206596138	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.1718G>T; p.C573F; 2:206573176-206573176	lung	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation