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

Selected Variant

1 paper

NM_001470.4

p.E70delFs

c.208delC

Surrounding Variants

1 paper

NM_001470.4

p.G69_V74insFs

c.206_222dup17

1 paper

NM_001470.4

p.V74_G75del1

c.222_224delCCC

1 paper

NM_001470.4

p.I63N

c.188T>A

1 paper

NM_001470.4

p.Y61*

c.183T>G

1 paper

NM_001470.4

p.Y61*

c.183T>A

1 paper

NM_001470.4

p.R79H

c.236G>A

1 paper

NM_001470.4

p.D60N

c.178G>A

1 paper

NM_001470.4

p.G85R

c.253G>C

1 paper

NM_001470.4

p.G85S

c.253G>A

1 paper

NM_001470.4

p.G85D

c.254G>A

1 paper

NM_001470.4

p.N84_S86ins1

c.252_257dup6

1 paper

NM_001470.4

p.W87delFs

c.261delC