Varaico: Literature-Extracted Genetic Variants

Gene:ARR3
Variant:p.T256Splc

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
8 papers
NM_004312.3
p.T256Splc
c.767+1G>A
Surrounding Variants
1 paper
NM_004312.3
p.T256Splc
c.767+2T>G
1 paper
NM_004312.3
p.Q253fs
c.757_758fs
1 paper
NM_004312.3
p.Q253fs
c.757_758fs
4 papers
NM_004312.3
p.Q253delFs
c.757delC
1 paper
NM_004312.3
p.T247A
c.739A>G
1 paper
NM_004312.3
p.Y246*
c.738C>A
1 paper
NM_004312.3
p.Y246*
c.738C>G
1 paper
NM_004312.3
p.K245*
c.733A>T
1 paper
NM_004312.3
p.S242insFs
c.726dupA
1 paper
NM_004312.3
p.L240L
c.720G>A
1 paper
NM_004312.3
p.D237insFs
c.709dupG
4 papers
NM_004312.3
p.T236R
c.707C>G
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