| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 10628 |
Name | TXNIP |
Synonymous | EST01027|HHCPA78|THIF|VDUP1;thioredoxin interacting protein;TXNIP;thioredoxin interacting protein |
Definition | thioredoxin binding protein 2|thioredoxin-binding protein 2|thioredoxin-interacting protein|upregulated by 1,25-dihydroxyvitamin D-3|vitamin D3 up-regulated protein 1 |
Position | 1q21.1 |
Gene Type | protein-coding |
Gene Mutation: | PCGP germline mutation PCGP somatic mutation COSMIC somatic mutation |
PCGP germline mutation [Top] | ||
There is no record for TXNIP | ||
PCGP somatic mutation [Top] | ||
Variant (Variant; Chr; Position) | Genotype (MutationType; MutationClass; ReferenceAllele; Genotype; Origin) | Disease (CancerType; ValidationStatus; SequencingType) |
|---|---|---|
TXNIP_K5E; chr1; 145438815 |
SUB; MISSENSE; A; A/G; SOMATIC | RHB; VALID; WGS |
COSMIC somatic mutation [Top] | ||
Mutation (CDS; AA; Chr) | Site | Histology |
|---|---|---|
c.385_386insT; p.D130fs*1; |
NS | NS |
c.317C>A; p.P106H; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.915A>T; p.R305S; |
liver | carcinoma |
c.886_887insT; p.G297fs*20; |
liver | carcinoma |
c.1088T>A; p.I363N; |
large_intestine; colon | carcinoma |
c.351A>C; p.K117N; |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma |
c.73G>T; p.E25*; |
lung | carcinoma; adenocarcinoma |
c.1022A>G; p.D341G; |
lung | carcinoma; adenocarcinoma |
c.920C>A; p.S307Y; |
lung | carcinoma; adenocarcinoma |
c.1158_1160delCAA; p.N389delN; |
breast | carcinoma; ductal_carcinoma |
c.500A>G; p.K167R; |
breast | carcinoma |
c.1002T>C; p.Y334Y; |
prostate | carcinoma |
c.4G>A; p.V2M; |
liver | carcinoma |
c.762C>A; p.S254R; |
breast | carcinoma; basal_(triple-negative)_carcinoma |
c.824C>A; p.S275Y; |
central_nervous_system; temporal_lobe | glioma; ependymoma |
c.497A>G; p.K166R; 1:144151420-144151420 |
ovary | carcinoma; serous_carcinoma |
c.504T>A; p.V168V; 1:144151427-144151427 |
ovary | carcinoma; serous_carcinoma |
c.1045A>T; p.T349S; |
lung; right_lower_lobe | carcinoma; adenocarcinoma |
c.81G>T; p.V27V; |
lung | carcinoma; adenocarcinoma |
c.738A>G; p.T246T; |
ovary | carcinoma; serous_carcinoma |
c.396G>T; p.P132P; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.498G>T; p.K166N; |
lung; right_upper_lobe | carcinoma; adenocarcinoma |
c.511A>G; p.M171V; |
breast | carcinoma |
c.198T>C; p.T66T; |
breast | carcinoma |
c.876G>A; p.L292L; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.39C>A; p.V13V; |
breast | carcinoma |
c.1063_1064delAT; p.M355fs*14; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.26C>A; p.S9Y; |
large_intestine; colon | carcinoma; adenocarcinoma |
c.206A>G; p.Y69C; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1049C>A; p.P350H; |
endometrium | carcinoma; endometrioid_carcinoma |
c.392G>A; p.R131H; |
breast | carcinoma |
c.561A>C; p.K187N; |
large_intestine; caecum | carcinoma; adenocarcinoma |
c.1015C>G; p.P339A; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.516C>A; p.F172L; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1158_1160delCAA; p.N389delN; |
endometrium | carcinoma; endometrioid_carcinoma |
c.110A>G; p.E37G; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.496_498delAAG; p.K167delK; |
endometrium | carcinoma; endometrioid_carcinoma |
c.420G>C; p.K140N; |
urinary_tract; bladder | carcinoma |
c.557G>A; p.R186K; |
urinary_tract; bladder | carcinoma |
c.653G>T; p.R218L; |
prostate | carcinoma; adenocarcinoma |
c.1078G>C; p.D360H; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.26C>A; p.S9Y; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.580G>A; p.E194K; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |
c.595G>A; p.A199T; |
endometrium | carcinoma; endometrioid_carcinoma |
c.1028G>C; p.R343P; |
cervix | carcinoma; squamous_cell_carcinoma |
c.620G>T; p.R207L; |
urinary_tract; bladder | carcinoma |
c.456T>C; p.N152N; |
prostate | carcinoma; adenocarcinoma |
c.358T>C; p.C120R; |
skin | malignant_melanoma |
c.134G>A; p.R45K; |
skin | malignant_melanoma |
c.88C>T; p.R30W; |
skin | malignant_melanoma |
c.795delG; p.G266fs*12; |
kidney | carcinoma; clear_cell_renal_cell_carcinoma |