Varaico: Literature-Extracted Genetic Variants

TXNIP

128 papers

RefSeq Summary

This gene encodes a thioredoxin-binding protein that is a member of the alpha arrestin protein family. Thioredoxin is a thiol-oxidoreductase that is a major regulator of cellular redox signaling which...

Pfam Domains

Arrestin_Naa 10–152UCSCArrestin (or S-antigen), N-terminal domain

Arrestin_Caa 174–300UCSCArrestin (or S-antigen), C-terminal domain

Gene Aliases

HGNC Name

thioredoxin interacting protein

HGNC Alias Symbols

VDUP1; EST01027; HHCPA78; THIF; ARRDC6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006472.6

p.K166R

c.497A>G

Surrounding Variants

1 paper

NM_006472.6

p.E165del1

c.493_494delTTC

1 paper

NM_006472.6

p.K164_E165insFs

c.492_493ins4

1 paper

NM_006472.6

p.K166_K167del1

c.498_500delTTC

1 paper

NM_006472.6

p.K167del1

c.499_500delTTT

1 paper

NM_006472.6

p.S169T

c.505T>A

2 papers

NM_006472.6

p.C170S

c.508T>A

2 papers

NM_006472.6

p.C170S

c.509G>C

2 papers

NM_006472.6

p.P174S

c.520C>T

2 papers

NM_006472.6

p.R177Q

c.530G>A

2 papers

NM_006472.6

p.S179F

c.536C>T

1 paper

NM_006472.6

p.S181C

c.542C>G

1 paper

NM_006472.6

p.C190S

c.568T>A