Varaico: Literature-Extracted Genetic Variants

GABRA1

331 papers

RefSeq Summary

This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride cha...

Pfam Domains

Neur_chan_LBDaa 42–250UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 257–366UCSCNeurotransmitter-gated ion-channel transmembrane region

Neur_chan_membaa 342–439UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit alpha1

HGNC Alias Symbol

EJM5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

5 papers

NM_001127644.2

p.Y189F

c.566A>T

Surrounding Variants

2 papers

NM_001127644.2

p.A188D

c.563C>A

1 paper

NM_001127644.2

p.A188G

c.563C>G

1 paper

NM_001127644.2

p.T190T

c.570A>C

1 paper

NM_001127644.2

p.R191_W198del0

c.572_592del21

2 papers

NM_001127644.2

p.Y187C

c.560A>G

5 papers

NM_001127644.2

p.Y187F

c.560A>T

1 paper

NM_001127644.2

p.V194I

c.580G>A

1 paper

NM_001127644.2

p.V194F

c.580G>T

5 papers

NM_001127644.2

p.Y196H

c.586T>C

1 paper

NM_001127644.2

p.Y196C

c.587A>G

1 paper

NM_001127644.2

p.Y196Y

c.588T>C

1 paper

NM_001127644.2

p.E197K

c.589G>A