Varaico: Literature-Extracted Genetic Variants

GABBR1

258 papers

RefSeq Summary

This gene encodes a receptor for gamma-aminobutyric acid (GABA), which is the main inhibitory neurotransmitter in the mammalian central nervous system. This receptor functions as a heterodimer with GA...

Pfam Domains

Sushiaa 103–157UCSCSushi repeat (SCR repeat)

ANF_receptoraa 187–545UCSCReceptor family ligand binding region

7tm_3aa 586–856UCSC7 transmembrane sweet-taste receptor of 3 GCPR

Gene Aliases

HGNC Name

gamma-aminobutyric acid type B receptor subunit 1

HGNC Alias Symbols

hGB1a; GPRC3A

Papers

RefSeq ID

Protein change

DNA change

1–12 of 134 variants

35 papers

NM_001470.4

p.G489S

c.1465G>A

24 papers

NM_001470.4

p.N409S

c.1226A>G

15 papers

NM_001470.4

p.A20V

c.59C>T

5 papers

NM_001470.4

p.S491S

c.1473T>C

4 papers

NM_001470.4

p.E448Q

c.1342G>C

3 papers

NM_001470.4

p.R13R

c.39C>T

3 papers

NM_001470.4

p.R48W

c.142C>T

3 papers

NM_001470.4

p.E368D

c.1104G>T

3 papers

NM_001470.4

p.E368D

c.1104G>C

3 papers

NM_001470.4

p.A397V

c.1190C>T

3 papers

NM_001470.4

p.A433S

c.1297G>T

3 papers

NM_001470.4

p.G492G

c.1476T>C