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.E368D

c.1104G>C

Surrounding Variants

3 papers

NM_001470.4

p.E368D

c.1104G>T

1 paper

NM_001470.4

p.E377K

c.1129G>A

1 paper

NM_001470.4

p.K355_R356Splc

c.1065+1G>A

2 papers

NM_001470.4

p.A348P

c.1042G>C

2 papers

NM_001470.4

p.V330V

c.990G>A

1 paper

NM_001470.4

p.Y379C

c.1136A>G

1 paper

NM_001470.4

p.I393V

c.1177A>G

3 papers

NM_001470.4

p.A397V

c.1190C>T

1 paper

NM_001470.4

p.D398A

c.1193A>C

1 paper

NM_001470.4

p.Y404F

c.1211A>T

24 papers

NM_001470.4

p.N409S

c.1226A>G

1 paper

NM_001470.4

p.E414K

c.1240G>A