Varaico: Literature-Extracted Genetic Variants

Gene:ARR3
Variant:p.Q267H

ARR3

112 papers

RefSeq Summary

The protein encoded by this gene is a non-visual arrestin which binds to agonist-activated, phosphorylated G protein-coupled receptors. This binding uncouples the receptor from the heterotrimeric G pr...

Pfam Domains

Arrestin_Naa 14–171UCSCArrestin (or S-antigen), N-terminal domain
Arrestin_Caa 190–353UCSCArrestin (or S-antigen), C-terminal domain

Gene Aliases

HGNC Name

arrestin 3

HGNC Alias Symbol

ARRX

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_004312.3
p.Q267H
c.801G>C
Surrounding Variants
1 paper
NM_004312.3
p.Q267H
c.801G>T
1 paper
NM_004312.3
p.S266_Q267delFs
c.797_801del5
1 paper
NM_004312.3
p.T258A
c.772A>G
1 paper
NM_004312.3
p.K281delFs
c.843delA
3 papers
NM_004312.3
p.R282insFs
c.844_845insT
6 papers
NM_004312.3
p.G283delFs
c.848delG
1 paper
NM_004312.3
p.R282fs
c.844_845fs
1 paper
NM_004312.3
p.R282Q
c.845G>A
1 paper
NM_004312.3
p.R282insFs
c.845_846insT
5 papers
NM_004312.3
p.G283fs
c.847_848fs
1 paper
NM_004312.3
p.A285E
c.854C>A
1 paper
NM_004312.3
p.G288D
c.863G>A
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