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.L12I

c.34C>A

Surrounding Variants

3 papers

NM_001470.4

p.R13R

c.39C>T

1 paper

NM_001470.4

p.P14R

c.41C>G

15 papers

NM_001470.4

p.A20V

c.59C>T

1 paper

NM_001470.4

p.E28_G29insFs

c.84_85insGG

1 paper

NM_001470.4

p.E28insFs

c.84dupA

1 paper

NM_001470.4

p.G29Splc

c.85+1G>A

2 papers

NM_001470.4

p.P35S

c.103C>T

3 papers

NM_001470.4

p.R48W

c.142C>T

1 paper

NM_001470.4

p.D60N

c.178G>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.I63N

c.188T>A