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.I477_M493delFs

c.1431_1477del47

Surrounding Variants

1 paper

NM_005458.8

p.A496S

c.1486G>T

1 paper

NM_005458.8

p.K505K

c.1515G>A

1 paper

NM_005458.8

p.R507W

c.1519C>T

1 paper

NM_005458.8

p.P464fs

c.1390_1391fs

1 paper

NM_005458.8

p.P464delFs

c.1391delG

1 paper

NM_005458.8

p.E462K

c.1384G>A

1 paper

NM_005458.8

p.G460R

c.1378G>C

1 paper

NM_005458.8

p.G460R

c.1378G>A

1 paper

NM_005458.8

p.K510Splc

c.1530-6T>C

1 paper

NM_005458.8

p.M519V

c.1555A>G

1 paper

NM_005458.8

p.C553fs

c.1657_1658fs

1 paper

NM_005458.8

p.L552_C553delFs

c.1656_1657delAA