| Gene ID | 7296 |
| Symbol | TXNRD1 |
| Synonymous | GRIM-12|TR|TR1|TRXR1|TXNR |
| Full name | thioredoxin reductase 1 |
| Gene description | KM-102-derived reductase-like factor|gene associated with retinoic and IFN-induced mortality 12 protein|gene associated with retinoic and interferon-induced mortality 12 protein|oxidoreductase|thioredoxin reductase 1, cytoplasmic|thioredoxin reductase GRI |
| Cytoband | 12q23-q24.1 |
| Gene type | protein-coding |
| Synonymous | MIM:601112; HGNC:HGNC:12437; Ensembl:ENSG00000198431; HPRD:03068; Vega:OTTHUMG00000166481 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.1189G>T; p.E397*; 12:104331630-104331630 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.479C>T; p.A160V; 12:104319525-104319525 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.543T>C; p.D181D; 12:104321094-104321094 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.543T>C; p.D181D; 12:104321094-104321094 |
large_intestine | carcinoma; adenocarcinoma | Substitution - coding silent |
c.207G>A; p.L69L; 12:104315823-104315823 |
lung | carcinoma; adenocarcinoma | Substitution - coding silent |
c.165C>T; p.L55L; 12:104315781-104315781 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.814C>T; p.Q272*; 12:104325385-104325385 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.814C>T; p.Q272*; 12:104325385-104325385 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.1492T>C; p.*498R; 12:104348413-104348413 |
endometrium | carcinoma; endometrioid_carcinoma | Nonstop extension |
c.858+5G>C; p.?; 12:104325434-104325434 |
liver | carcinoma | Unknown |
c.146T>G; p.L49R; 12:104313303-104313303 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.468A>T; p.R156S; 12:104319514-104319514 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.964G>A; p.E322K; 12:104327543-104327543 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.136C>T; p.P46S; 12:104313293-104313293 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.766G>T; p.V256F; 12:104325337-104325337 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.43C>T; p.L15F; 12:104311368-104311368 |
skin | malignant_melanoma | Substitution - Missense |
c.1092G>T; p.K364N; 12:104327671-104327671 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.506G>A; p.G169D; 12:104319552-104319552 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1472G>A; p.S491N; 12:104348393-104348393 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.645C>T; p.D215D; 12:104321196-104321196 |
breast | carcinoma | Substitution - coding silent |
c.511C>G; p.P171A; 12:104319557-104319557 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.645C>T; p.D215D; 12:104321196-104321196 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.562T>C; p.Y188H; 12:104321113-104321113 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.754G>A; p.V252I; 12:104321305-104321305 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.830A>T; p.E277V; 12:104325401-104325401 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.227T>C; p.L76S; 12:104315843-104315843 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.712G>A; p.E238K; 12:104321263-104321263 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.712G>A; p.E238K; 12:104321263-104321263 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1_2insT; p.?; 12:104311326-104311327 |
large_intestine | carcinoma; adenocarcinoma | Unknown |
c.137C>T; p.P46L; 12:104313294-104313294 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1112C>A; p.P371Q; 12:104331553-104331553 |
liver | carcinoma | Substitution - Missense |
c.772C>G; p.Q258E; 12:104325343-104325343 |
skin | malignant_melanoma | Substitution - Missense |
c.1490G>A; p.C497Y; 12:104348411-104348411 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.497G>A; p.R166H; 12:104319543-104319543 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.907_908insA; p.T304fs*8; 12:104326395-104326396 |
large_intestine; colon | carcinoma; adenocarcinoma | Insertion - Frameshift |
c.704A>T; p.K235I; 12:104321255-104321255 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.494C>T; p.P165L; 12:104319540-104319540 |
skin | malignant_melanoma | Substitution - Missense |
c.431A>C; p.N144T; 12:104319477-104319477 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.271G>A; p.E91K; 12:104315887-104315887 |
ovary | other; neoplasm | Substitution - Missense |
c.271G>A; p.E91K; 12:104315887-104315887 |
ovary | other; neoplasm | Substitution - Missense |
c.1432G>T; p.V478L; 12:104348353-104348353 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.862A>G; p.M288V; 12:104326350-104326350 |
breast | carcinoma | Substitution - Missense |
c.338A>T; p.N113I; 12:104318970-104318970 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.1059G>A; p.L353L; 12:104327638-104327638 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.32A>G; p.Y11C; 12:104311357-104311357 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1431+2T>C; p.?; 12:104339275-104339275 |
stomach | carcinoma; adenocarcinoma | Unknown |
c.1431+2T>C; p.?; 12:104339275-104339275 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.913G>A; p.V305I; 12:104326401-104326401 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.251G>A; p.R84Q; 12:104315867-104315867 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.251G>A; p.R84Q; 12:104315867-104315867 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.450A>C; p.K150N; 12:104319496-104319496 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.350G>A; p.R117Q; 12:104318982-104318982 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.298A>G; p.R100G; 12:104318930-104318930 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.125A>G; p.D42G; 12:104313282-104313282 |
oesophagus | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.449A>C; p.K150T; 12:104319495-104319495 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.64T>C; p.S22P; 12:104311389-104311389 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.511C>T; p.P171S; 12:104319557-104319557 |
breast | carcinoma | Substitution - Missense |
c.1159G>C; p.E387Q; 12:104331600-104331600 |
cervix | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1159G>C; p.E387Q; 12:104331600-104331600 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.445G>T; p.E149*; 12:104319491-104319491 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.523G>T; p.E175*; 12:104319569-104319569 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.554C>T; p.S185F; 12:104321105-104321105 |
skin | malignant_melanoma | Substitution - Missense |
c.949C>G; p.P317A; 12:104327528-104327528 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.1159G>A; p.E387K; 12:104331600-104331600 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.423+1G>A; p.?; 12:104319056-104319056 |
large_intestine; caecum | carcinoma; adenocarcinoma | Unknown |
c.1236G>T; p.T412T; 12:104334272-104334272 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1236G>T; p.T412T; 12:104334272-104334272 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - coding silent |
c.980C>T; p.P327L; 12:104327559-104327559 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.362G>A; p.R121Q; 12:104318994-104318994 |
skin | malignant_melanoma | Substitution - Missense |
c.1089C>G; p.V363V; 12:104327668-104327668 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.707T>C; p.I236T; 12:104321258-104321258 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.695T>G; p.M232R; 12:104321246-104321246 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1477C>T; p.L493F; 12:104348398-104348398 |
skin | malignant_melanoma | Substitution - Missense |
c.698C>T; p.A233V; 12:104321249-104321249 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |