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

1–12 of 94 variants

11 papers

NM_006472.6

p.C247S

c.739T>A

11 papers

NM_006472.6

p.C247S

c.740G>C

3 papers

NM_006472.6

p.D193E

c.579T>G

3 papers

NM_006472.6

p.D193E

c.579T>A

2 papers

NM_006472.6

p.C36S

c.106T>A

2 papers

NM_006472.6

p.C36S

c.107G>C

2 papers

NM_006472.6

p.M57T

c.170T>C

2 papers

NM_006472.6

p.Q58H

c.174G>T

2 papers

NM_006472.6

p.Q58H

c.174G>C

2 papers

NM_006472.6

p.G59*

c.175G>T

2 papers

NM_006472.6

p.Q58_G59delins

c.174_175delinsTT

2 papers

NM_006472.6

p.C170S

c.508T>A