Varaico: Literature-Extracted Genetic Variants

Gene:GABBR2
Variant:p.S695N

GABBR2

156 papers

RefSeq Summary

The multi-pass membrane protein encoded by this gene belongs to the G-protein coupled receptor 3 family and GABA-B receptor subfamily. The GABA-B receptors inhibit neuronal activity through G protein-...

Pfam Domains

ANF_receptoraa 76–434UCSCReceptor family ligand binding region
7tm_3aa 475–743UCSC7 transmembrane sweet-taste receptor of 3 GCPR
GBR2_CCaa 779–817UCSCGamma-aminobutyric acid type B receptor subunit 2 coiled-coil domain

Gene Aliases

HGNC Name

gamma-aminobutyric acid type B receptor subunit 2

HGNC Previous Symbol

GPR51

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_005458.8
p.S695N
c.2084G>A
Surrounding Variants
10 papers
NM_005458.8
p.S695I
c.2084G>T
1 paper
NM_005458.8
p.M694T
c.2081T>C
8 papers
NM_005458.8
p.G693W
c.2077G>T
1 paper
NM_005458.8
p.I692I
c.2076C>T
1 paper
NM_005458.8
p.I692V
c.2074A>G
1 paper
NM_005458.8
p.Y691C
c.2072A>G
1 paper
NM_005458.8
p.Y691S
c.2072A>C
1 paper
NM_005458.8
p.K690R
c.2069A>G
2 papers
NM_005458.8
p.M702V
c.2104A>G
1 paper
NM_005458.8
p.M702I
c.2106G>T
1 paper
NM_005458.8
p.M702I
c.2106G>C
1 paper
NM_005458.8
p.M702I
c.2106G>A
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