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

3 papers

NM_001470.4

p.G492G

c.1476T>C

Surrounding Variants

5 papers

NM_001470.4

p.S491S

c.1473T>C

35 papers

NM_001470.4

p.G489S

c.1465G>A

1 paper

NM_001470.4

p.G486R

c.1456G>A

1 paper

NM_001470.4

p.A480T

c.1438G>A

1 paper

NM_001470.4

p.A512delFs

c.1535delG

1 paper

NM_001470.4

p.N514T

c.1541A>C

1 paper

NM_001470.4

p.A470S

c.1408G>T

1 paper

NM_001470.4

p.S515S

c.1545T>C

1 paper

NM_001470.4

p.P468P

c.1404G>A

1 paper

NM_001470.4

p.E459A

c.1376A>C

1 paper

NM_001470.4

p.E459*

c.1375G>T

4 papers

NM_001470.4

p.E448Q

c.1342G>C