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	217
Symbol	ALDH2
Synonymous	ALDH-E2\|ALDHI\|ALDM
Full name	aldehyde dehydrogenase 2 family (mitochondrial)
Gene description	ALDH class 2\|acetaldehyde dehydrogenase 2\|aldehyde dehydrogenase, mitochondrial\|liver mitochondrial ALDH\|nucleus-encoded mitochondrial aldehyde dehydrogenase 2
Cytoband	12q24.2
Gene type	protein-coding
Synonymous	MIM:100650; HGNC:HGNC:404; Ensembl:ENSG00000111275; HPRD:00003; Vega:OTTHUMG00000169603

COSMIC somatic mutation

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
c.979G>A; p.V327M; 12:111792678-111792678	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1463C>T; p.S488L; 12:111803915-111803915	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1463C>T; p.S488L; 12:111803915-111803915	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1463C>T; p.S488L; 12:111803915-111803915	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1294G>A; p.E432K; 12:111799951-111799951	skin	malignant_melanoma	Substitution - Missense
c.152G>A; p.R51K; 12:111781955-111781955	skin	malignant_melanoma	Substitution - Missense
c.262C>T; p.Q88*; 12:111783200-111783200	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Nonsense
c.349A>T; p.T117S; 12:111783287-111783287	prostate	carcinoma	Substitution - Missense
c.345C>T; p.D115D; 12:111783283-111783283	skin	malignant_melanoma	Substitution - coding silent
c.508T>C; p.Y170H; 12:111789890-111789890	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.843A>G; p.R281R; 12:111792108-111792108	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.928G>A; p.A310T; 12:111792627-111792627	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1395G>A; p.A465A; 12:111800052-111800052	skin	malignant_melanoma	Substitution - coding silent
c.1395G>A; p.A465A; 12:111800052-111800052	skin	malignant_melanoma	Substitution - coding silent
c.1540C>G; p.Q514E; 12:111809561-111809561	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.595G>C; p.A199P; 12:111790476-111790476	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.811C>T; p.Q271*; 12:111792076-111792076	skin; ankle	malignant_melanoma; acral_lentiginous	Substitution - Nonsense
c.1128G>T; p.T376T; 12:111798122-111798122	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.442T>C; p.Y148H; 12:111789824-111789824	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.325G>A; p.A109T; 12:111783263-111783263	NS	malignant_melanoma	Substitution - Missense
c.325G>A; p.A109T; 12:111783263-111783263	NS	malignant_melanoma	Substitution - Missense
c.1145C>T; p.A382V; 12:111798139-111798139	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.169G>A; p.V57I; 12:111781972-111781972	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1280T>C; p.F427S; 12:111799937-111799937	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1280T>C; p.F427S; 12:111799937-111799937	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.802C>T; p.R268C; 12:111792067-111792067	skin	malignant_melanoma	Substitution - Missense
c.652G>A; p.A218T; 12:111790533-111790533	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.153G>A; p.R51R; 12:111781956-111781956	skin	malignant_melanoma	Substitution - coding silent
c.153G>A; p.R51R; 12:111781956-111781956	skin	malignant_melanoma	Substitution - coding silent
c.1024C>G; p.R342G; 12:111792723-111792723	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.528G>A; p.V176V; 12:111789910-111789910	large_intestine	carcinoma; adenocarcinoma	Substitution - coding silent
c.1269G>A; p.Q423Q; 12:111799926-111799926	prostate	carcinoma; adenocarcinoma	Substitution - coding silent
c.546C>T; p.I182I; 12:111789928-111789928	NS	malignant_melanoma	Substitution - coding silent
c.546C>T; p.I182I; 12:111789928-111789928	NS	malignant_melanoma	Substitution - coding silent
c.192C>T; p.V64V; 12:111781995-111781995	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1128G>A; p.T376T; 12:111798122-111798122	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1146G>A; p.A382A; 12:111798140-111798140	skin	malignant_melanoma	Substitution - coding silent
c.1146G>A; p.A382A; 12:111798140-111798140	oesophagus	carcinoma; adenocarcinoma	Substitution - coding silent
c.1128G>A; p.T376T; 12:111798122-111798122	upper_aerodigestive_tract; mouth	carcinoma	Substitution - coding silent
c.213G>A; p.G71G; 12:111782016-111782016	skin	malignant_melanoma	Substitution - coding silent
c.858G>T; p.L286L; 12:111792123-111792123	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - coding silent
c.284G>A; p.R95H; 12:111783222-111783222	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.440+8C>T; p.?; 12:111785354-111785354	pancreas	carcinoma	Unknown
c.348G>A; p.R116R; 12:111783286-111783286	skin	malignant_melanoma	Substitution - coding silent
c.1149G>T; p.K383N; 12:111798143-111798143	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.566T>C; p.L189P; 12:111790447-111790447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.566T>C; p.L189P; 12:111790447-111790447	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.566T>C; p.L189P; 12:111790447-111790447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.566T>C; p.L189P; 12:111790447-111790447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.566T>C; p.L189P; 12:111790447-111790447	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.566T>C; p.L189P; 12:111790447-111790447	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.608G>A; p.G203E; 12:111790489-111790489	large_intestine; caecum	adenoma	Substitution - Missense
c.143C>T; p.A48V; 12:111781946-111781946	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.571A>G; p.M191V; 12:111790452-111790452	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.741C>T; p.A247A; 12:111791365-111791365	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.857_858insG; p.K289fs*45; 12:111792122-111792123	ovary	carcinoma; serous_carcinoma	Insertion - Frameshift
c.292G>A; p.A98T; 12:111783230-111783230	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1036C>T; p.R346W; 12:111792735-111792735	NS	malignant_melanoma	Substitution - Missense
c.631G>A; p.A211T; 12:111790512-111790512	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.858delG; p.K289fs*122; 12:111792123-111792123	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.858delG; p.K289fs*122; 12:111792123-111792123	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.858delG; p.K289fs*122; 12:111792123-111792123	large_intestine; colon	carcinoma; adenocarcinoma	Deletion - Frameshift
c.858delG; p.K289fs*122; 12:111792123-111792123	large_intestine	carcinoma; adenocarcinoma	Deletion - Frameshift
c.681+2T>C; p.?; 12:111790564-111790564	skin	malignant_melanoma	Unknown
c.567C>G; p.L189L; 12:111790448-111790448	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.340C>T; p.R114W; 12:111783278-111783278	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1127C>T; p.T376M; 12:111798121-111798121	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.927C>T; p.F309F; 12:111792626-111792626	skin	malignant_melanoma	Substitution - coding silent
c.279G>A; p.W93*; 12:111783217-111783217	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.279G>A; p.W93*; 12:111783217-111783217	large_intestine	carcinoma; adenocarcinoma	Substitution - Nonsense
c.448G>A; p.A150T; 12:111789830-111789830	skin; nipple	malignant_melanoma	Substitution - Missense
c.823G>A; p.G275R; 12:111792088-111792088	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.283C>T; p.R95C; 12:111783221-111783221	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.120C>A; p.F40L; 12:111781923-111781923	thyroid	other; neoplasm	Substitution - Missense
c.1513G>A; p.V505M; 12:111803965-111803965	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.997G>A; p.D333N; 12:111792696-111792696	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1025G>A; p.R342Q; 12:111792724-111792724	skin	malignant_melanoma	Substitution - Missense
c.1510G>A; p.E504K; 12:111803962-111803962	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1510G>A; p.E504K; 12:111803962-111803962	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1510G>A; p.E504K; 12:111803962-111803962	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1238C>T; p.A413V; 12:111798232-111798232	stomach	adenocarcinoma	Substitution - Missense
c.752C>T; p.S251F; 12:111791376-111791376	skin	malignant_melanoma	Substitution - Missense
c.1493G>A; p.G498E; 12:111803945-111803945	skin	malignant_melanoma	Substitution - Missense
c.363C>A; p.A121A; 12:111785269-111785269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.343G>A; p.D115N; 12:111783281-111783281	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.1114G>A; p.G372S; 12:111798108-111798108	skin	malignant_melanoma	Substitution - Missense
c.1249-1G>A; p.?; 12:111799905-111799905	central_nervous_system; brain	glioma; astrocytoma_Grade_IV	Unknown
c.219+1G>A; p.?; 12:111782023-111782023	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Unknown
c.1394C>T; p.A465V; 12:111800051-111800051	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.359C>T; p.A120V; 12:111783297-111783297	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.492C>T; p.D164D; 12:111789874-111789874	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.319C>T; p.R107C; 12:111783257-111783257	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1175C>T; p.A392V; 12:111798169-111798169	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.686G>A; p.G229D; 12:111791310-111791310	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1336G>T; p.A446S; 12:111799993-111799993	liver	carcinoma; hepatocellular_carcinoma	Substitution - Missense
c.177G>A; p.P59P; 12:111781980-111781980	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.592C>T; p.P198S; 12:111790473-111790473	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.414T>G; p.D138E; 12:111785320-111785320	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.559T>A; p.F187I; 12:111790440-111790440	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.166A>G; p.T56A; 12:111781969-111781969	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.251G>A; p.R84Q; 12:111783189-111783189	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense

Annotation category 5

Basic annotation

Literature evidence

Expression

Somatic mutation

Network

ceRNA

Gene information

COSMIC somatic mutation