Varaico: Literature-Extracted Genetic Variants

Gene:ARR3
Variant:p.Q115H

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
2 papers
NM_004312.3
p.Q115H
c.345G>T
Surrounding Variants
3 papers
NM_004312.3
p.Q115H
c.345G>C
1 paper
NM_004312.3
p.Q115_M116Splc
c.345+1G>A
1 paper
NM_004312.3
p.F112L
c.336T>A
1 paper
NM_004312.3
p.F112Y
c.335T>A
1 paper
NM_004312.3
p.H103N
c.307C>A
17 papers
NM_004312.3
p.R100*
c.298C>T
1 paper
NM_004312.3
p.E99Q
c.295G>C
1 paper
NM_004312.3
p.P84Q
c.251C>A
1 paper
NM_004312.3
p.P84S
c.250C>T
15 papers
NM_004312.3
p.L80P
c.239T>C
1 paper
NM_004312.3
p.Q78_T79insFs
c.234_235insAA
3 papers
NM_004312.3
p.Q78*
c.232C>T
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