Varaico: Literature-Extracted Genetic Variants

Gene:GPR88
Variant:p.R279Q

GPR88

41 papers

RefSeq Summary

The protein encoded by this gene is a G protein-coupled receptor found almost exclusively in the striatum, a brain structure that controls motor function and cognition. Defects in this gene have been ...

Pfam Domains

7tm_1aa 48–336UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

G protein-coupled receptor 88

HGNC Previous Names

G-protein coupled receptor 88; G protein coupled receptor 88

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_022049.3
p.R279Q
c.836G>A
Surrounding Variants
1 paper
NM_022049.3
p.G283V
c.848G>T
1 paper
NM_022049.3
p.H273P
c.818A>C
1 paper
NM_022049.3
p.H273L
c.818A>T
4 papers
NM_022049.3
p.C291*
c.873C>A
1 paper
NM_022049.3
p.L294L
c.882G>A
1 paper
NM_022049.3
p.V303M
c.907G>A
1 paper
NM_022049.3
p.S310L
c.929C>T
1 paper
NM_022049.3
p.A246T
c.736G>A
1 paper
NM_022049.3
p.A243T
c.727G>A
1 paper
NM_022049.3
p.V317M
c.949G>A
1 paper
NM_022049.3
p.A245_A246ins0
c.733_738dup6
1 paper
NM_022049.3
p.Q318H
c.954G>C
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