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.A143delFs

c.427_428delGC

Surrounding Variants

1 paper

NM_005458.8

p.E144K

c.430G>A

3 papers

NM_005458.8

p.V138I

c.412G>A

1 paper

NM_005458.8

p.W149*

c.446G>A

1 paper

NM_005458.8

p.W149*

c.447G>A

1 paper

NM_005458.8

p.S137Y

c.410C>A

1 paper

NM_005458.8

p.V134I

c.400G>A

1 paper

NM_005458.8

p.M129delFs

c.385_386delAT

1 paper

NM_005458.8

p.A120T

c.358G>A

1 paper

NM_005458.8

p.K112T

c.335A>C

1 paper

NM_005458.8

p.A111E

c.332C>A

1 paper

NM_005458.8

p.C108*

c.324C>A