Varaico: Literature-Extracted Genetic Variants

Gene:ARR3
Variant:p.L38_V39del2

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.L38_V39del2
c.112_116del6
Surrounding Variants
4 papers
NM_004312.3
p.G35S
c.103G>A
2 papers
NM_004312.3
p.D34fs
c.100_101fs
3 papers
NM_004312.3
p.R47*
c.139C>T
1 paper
NM_004312.3
p.L49Splc
c.145+1G>A
1 paper
NM_004312.3
p.L49Splc
c.145+1G>T
2 papers
NM_004312.3
p.L49W
c.146T>G
1 paper
NM_004312.3
p.D34Splc
c.100+5G>A
2 papers
NM_004312.3
p.D34Splc
c.100+4A>G
5 papers
NM_004312.3
p.D34H
c.100G>C
1 paper
NM_004312.3
p.R21W
c.61C>T
1 paper
NM_004312.3
p.L18L
c.54G>A
1 paper
NM_004312.3
p.L14P
c.41T>C
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