| Gene ID | 81567 |
| Symbol | TXNDC5 |
| Synonymous | ENDOPDI|ERP46|HCC-2|PDIA15|STRF8|UNQ364 |
| Full name | thioredoxin domain containing 5 (endoplasmic reticulum) |
| Gene description | ER protein 46|endoplasmic reticulum protein ERp46|endoplasmic reticulum resident protein 46|endothelial protein disulphide isomerase|protein disulfide isomerase family A, member 15|thioredoxin domain-containing protein 5|thioredoxin related protein|thiore |
| Cytoband | 6p24.3 |
| Gene type | protein-coding |
| Synonymous | HGNC:HGNC:21073; Ensembl:ENSG00000239264; Ensembl:ENSG00000259040; HPRD:18249; Vega:OTTHUMG00000014216 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.593A>G; p.N198S; 6:7895129-7895129 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.593A>G; p.N198S; 6:7895129-7895129 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.902C>A; p.A301E; 6:7888766-7888766 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1190C>T; p.P397L; 6:7883253-7883253 |
breast | carcinoma | Substitution - Missense |
c.828G>C; p.Q276H; 6:7888840-7888840 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1035T>G; p.F345L; 6:7885972-7885972 |
breast | carcinoma | Substitution - Missense |
c.264-1G>T; p.?; 6:7904724-7904724 |
lung | carcinoma; non_small_cell_carcinoma | Unknown |
c.365C>T; p.T122M; 6:7904622-7904622 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.365C>T; p.T122M; 6:7904622-7904622 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.1103T>C; p.F368S; 6:7884432-7884432 |
large_intestine; colon | carcinoma | Substitution - Missense |
c.1103T>C; p.F368S; 6:7884432-7884432 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.1004C>T; p.T335I; 6:7886003-7886003 |
skin | malignant_melanoma | Substitution - Missense |
c.778C>T; p.R260C; 6:7889536-7889536 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.289C>T; p.P97S; 6:7904698-7904698 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1175C>T; p.S392L; 6:7884360-7884360 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.1175C>T; p.S392L; 6:7884360-7884360 |
skin; extremity | malignant_melanoma | Substitution - Missense |
c.541_542CC>AT; p.P181>?; 6:7895180-7895181 |
skin; extremity | malignant_melanoma | Complex |
c.291G>A; p.P97P; 6:7904696-7904696 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.897T>G; p.T299T; 6:7888771-7888771 |
kidney | carcinoma; papillary_renal_cell_carcinoma | Substitution - coding silent |
c.1114G>A; p.A372T; 6:7884421-7884421 |
skin | malignant_melanoma | Substitution - Missense |
c.1066C>G; p.L356V; 6:7884469-7884469 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.862G>T; p.E288*; 6:7888806-7888806 |
prostate | carcinoma | Substitution - Nonsense |
c.1176G>A; p.S392S; 6:7884359-7884359 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - coding silent |
c.1211G>A; p.G404E; 6:7883232-7883232 |
skin | malignant_melanoma | Substitution - Missense |
c.426C>T; p.F142F; 6:7899669-7899669 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.1207C>A; p.R403R; 6:7883236-7883236 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.926A>G; p.E309G; 6:7888742-7888742 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma | Substitution - Missense |
c.926A>G; p.E309G; 6:7888742-7888742 |
central_nervous_system; brain | primitive_neuroectodermal_tumour-medulloblastoma; medullomyoblastoma | Substitution - Missense |
c.507C>G; p.N169K; 6:7899588-7899588 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.917C>T; p.T306M; 6:7888751-7888751 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.320A>G; p.N107S; 6:7904667-7904667 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.754G>C; p.E252Q; 6:7889560-7889560 |
breast | carcinoma | Substitution - Missense |
c.759C>T; p.L253L; 6:7889555-7889555 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.645G>A; p.P215P; 6:7891708-7891708 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.265T>C; p.C89R; 6:7904722-7904722 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.887G>A; p.R296H; 6:7888781-7888781 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.315A>C; p.K105N; 6:7904672-7904672 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Missense |
c.430C>T; p.P144S; 6:7899665-7899665 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1207C>T; p.R403*; 6:7883236-7883236 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1207C>T; p.R403*; 6:7883236-7883236 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.1207C>T; p.R403*; 6:7883236-7883236 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - Nonsense |
c.805C>T; p.R269*; 6:7889509-7889509 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Nonsense |
c.1177G>A; p.V393I; 6:7883266-7883266 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.550G>A; p.A184T; 6:7895172-7895172 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.296G>A; p.W99*; 6:7904691-7904691 |
kidney | other; neoplasm | Substitution - Nonsense |
c.550G>A; p.A184T; 6:7895172-7895172 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.271C>T; p.H91Y; 6:7904716-7904716 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.550G>A; p.A184T; 6:7895172-7895172 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.931C>T; p.P311S; 6:7888737-7888737 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.302A>G; p.D101G; 6:7904685-7904685 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.644C>T; p.P215L; 6:7891709-7891709 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.644C>T; p.P215L; 6:7891709-7891709 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.514C>T; p.P172S; 6:7899581-7899581 |
haematopoietic_and_lymphoid_tissue | haematopoietic_neoplasm; acute_myeloid_leukaemia | Substitution - Missense |
c.1181G>A; p.R394Q; 6:7883262-7883262 |
pancreas | carcinoma | Substitution - Missense |
c.920C>T; p.P307L; 6:7888748-7888748 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.619G>A; p.D207N; 6:7891734-7891734 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.819+5G>A; p.?; 6:7889490-7889490 |
pancreas | carcinoma | Unknown |
c.325A>G; p.M109V; 6:7904662-7904662 |
liver | carcinoma | Substitution - Missense |
c.291G>T; p.P97P; 6:7904696-7904696 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.640G>A; p.A214T; 6:7891713-7891713 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.325A>G; p.M109V; 6:7904662-7904662 |
liver | carcinoma | Substitution - Missense |
c.996C>T; p.F332F; 6:7886011-7886011 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.516A>G; p.P172P; 6:7899579-7899579 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.650G>A; p.C217Y; 6:7891703-7891703 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.842G>A; p.R281Q; 6:7888826-7888826 |
upper_aerodigestive_tract; mouth | carcinoma | Substitution - Missense |
c.842G>A; p.R281Q; 6:7888826-7888826 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.1291G>A; p.E431K; 6:7883152-7883152 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1291G>A; p.E431K; 6:7883152-7883152 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.890C>T; p.T297I; 6:7888778-7888778 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.543G>A; p.P181P; 6:7895179-7895179 |
breast | carcinoma | Substitution - coding silent |
c.1208G>A; p.R403Q; 6:7883235-7883235 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; plasma_cell_myeloma | Substitution - Missense |
c.1208G>A; p.R403Q; 6:7883235-7883235 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.720C>T; p.V240V; 6:7891633-7891633 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.348G>T; p.V116V; 6:7904639-7904639 |
breast | carcinoma | Substitution - coding silent |