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

1 paper

NM_005458.8

p.T575N

c.1724C>A

Surrounding Variants

1 paper

NM_005458.8

p.A567V

c.1700C>T

1 paper

NM_005458.8

p.A567S

c.1699G>T

27 papers

NM_005458.8

p.A567T

c.1699G>A

1 paper

NM_005458.8

p.I559_L560delFs

c.1676_1679del4

1 paper

NM_005458.8

p.L598fs

c.1792_1793fs

1 paper

NM_005458.8

p.V601M

c.1801G>A

1 paper

NM_005458.8

p.G603fs

c.1807_1808fs

1 paper

NM_005458.8

p.I607I

c.1821C>T

1 paper

NM_005458.8

p.P620T

c.1858C>A

1 paper

NM_005458.8

p.P620fs

c.1858_1859fs

1 paper

NM_005458.8

p.R622*

c.1864C>T

1 paper

NM_005458.8

p.P620_R622delFs

c.1858_1865del8