Varaico: Literature-Extracted Genetic Variants

Gene:GABBR2
Variant:p.I704N

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.I704N
c.2111T>A
Surrounding Variants
1 paper
NM_005458.8
p.C703C
c.2109C>T
9 papers
NM_005458.8
p.I705N
c.2114T>A
1 paper
NM_005458.8
p.M702I
c.2106G>T
1 paper
NM_005458.8
p.G706R
c.2116G>C
1 paper
NM_005458.8
p.M702I
c.2106G>C
1 paper
NM_005458.8
p.G706R
c.2116G>A
1 paper
NM_005458.8
p.M702I
c.2106G>A
2 papers
NM_005458.8
p.M702V
c.2104A>G
7 papers
NM_005458.8
p.A707T
c.2119G>A
1 paper
NM_005458.8
p.A707A
c.2121C>T
1 paper
NM_005458.8
p.A707_A708ins3
c.2121_2122ins9
10 papers
NM_005458.8
p.S695I
c.2084G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."