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.L78P

c.233T>C

Surrounding Variants

1 paper

NM_006472.6

p.E79G

c.236A>G

1 paper

NM_006472.6

p.T75fs

c.223_224fs

1 paper

NM_006472.6

p.E68_Y72delFs

c.204_214del11

1 paper

NM_006472.6

p.Y72H

c.214T>C

1 paper

NM_006472.6

p.C63S

c.188G>C

1 paper

NM_006472.6

p.C63S

c.187T>A

2 papers

NM_006472.6

p.G59*

c.175G>T

1 paper

NM_006472.6

p.G59R

c.175G>C

1 paper

NM_006472.6

p.G59R

c.175G>A

2 papers

NM_006472.6

p.Q58_G59delins

c.174_175delinsTT

2 papers

NM_006472.6

p.Q58H

c.174G>T

2 papers

NM_006472.6

p.Q58H

c.174G>C