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

4 papers

NM_005458.8

p.T394M

c.1181C>T

Surrounding Variants

1 paper

NM_005458.8

p.R384Q

c.1151G>A

1 paper

NM_005458.8

p.V364I

c.1090G>A

1 paper

NM_005458.8

p.G356R

c.1066G>C

1 paper

NM_005458.8

p.G356R

c.1066G>A

1 paper

NM_005458.8

p.K353K

c.1059G>A

1 paper

NM_005458.8

p.S352G

c.1054A>G

1 paper

NM_005458.8

p.P351S

c.1051C>T

1 paper

NM_005458.8

p.G350V

c.1049G>T

1 paper

NM_005458.8

p.V349M

c.1045G>A

1 paper

NM_005458.8

p.K345T

c.1034A>C

1 paper

NM_005458.8

p.N344S

c.1031A>G

1 paper

NM_005458.8

p.R340_E341delFs

c.1020_1023del4