Varaico: Literature-Extracted Genetic Variants

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

5 papers

NM_005458.8

p.R212Q

c.635G>A

Surrounding Variants

2 papers

NM_005458.8

p.R212W

c.634C>T

1 paper

NM_005458.8

p.D214Y

c.640G>T

1 paper

NM_005458.8

p.Y220*

c.660T>G

1 paper

NM_005458.8

p.Y220*

c.660T>A

1 paper

NM_005458.8

p.D223D

c.669C>T

1 paper

NM_005458.8

p.S231N

c.692G>A