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

3 papers

NM_005458.8

p.M668L

c.2002A>T

Surrounding Variants

3 papers

NM_005458.8

p.M668L

c.2002A>C

1 paper

NM_005458.8

p.M668insFs

c.2004dupG

1 paper

NM_005458.8

p.Y663N

c.1987T>A

1 paper

NM_005458.8

p.I659I

c.1977C>T

1 paper

NM_005458.8

p.M668_L669Splc

c.2004+45G>A

1 paper

NM_005458.8

p.H652R

c.1955A>G

1 paper

NM_005458.8

p.R642C

c.1924C>T

1 paper

NM_005458.8

p.I641fs

c.1921_1922fs

1 paper

NM_005458.8

p.I639_S640insFs

c.1916_1919dup4

1 paper

NM_005458.8

p.R637W

c.1909C>T

1 paper

NM_005458.8

p.G671C

c.2011G>T

1 paper

NM_005458.8

p.G671D

c.2012G>A