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.T313I

c.938C>T

Surrounding Variants

1 paper

NM_006472.6

p.S314fs

c.940_941fs

1 paper

NM_006472.6

p.S315A

c.943T>G

1 paper

NM_006472.6

p.A310P

c.928G>C

1 paper

NM_006472.6

p.S308S

c.924C>T

1 paper

NM_006472.6

p.V282L

c.844G>C

1 paper

NM_006472.6

p.V282I

c.844G>A

1 paper

NM_006472.6

p.P332A

c.994C>G

1 paper

NM_006472.6

p.Y334F

c.1001A>T

1 paper

NM_006472.6

p.D336D

c.1008T>C

1 paper

NM_006472.6

p.R343Q

c.1028G>A

1 paper

NM_006472.6

p.T348A

c.1042A>G

1 paper

NM_006472.6

p.S275Y

c.824C>A