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.L222I

c.664C>A

Surrounding Variants

1 paper

NM_006472.6

p.I215_H219delFs

c.644_656del13

1 paper

NM_006472.6

p.R218C

c.652C>T

1 paper

NM_006472.6

p.I215fs

c.643_644fs

1 paper

NM_006472.6

p.A214_I215insFs

c.642_643insT

1 paper

NM_006472.6

p.S235L

c.704C>T

1 paper

NM_006472.6

p.R207R

c.619C>A

1 paper

NM_006472.6

p.C205S

c.614G>C

1 paper

NM_006472.6

p.C205S

c.613T>A

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