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.S275Y

c.824C>A

Surrounding Variants

2 papers

NM_006472.6

p.I269V

c.805A>G

2 papers

NM_006472.6

p.C267S

c.800G>C

2 papers

NM_006472.6

p.C267S

c.799T>A

1 paper

NM_006472.6

p.P262S

c.784C>T

1 paper

NM_006472.6

p.R256Q

c.767G>A

1 paper

NM_006472.6

p.S254S

c.762C>T

11 papers

NM_006472.6

p.C247S

c.740G>C

11 papers

NM_006472.6

p.C247S

c.739T>A

1 paper

NM_006472.6

p.S235L

c.704C>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.L222I

c.664C>A