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

1–12 of 731 variants

79 papers

NM_001127644.2

p.A322D

c.965C>A

25 papers

NM_001127644.2

p.R112Q

c.335G>A

25 papers

NM_001127644.2

p.F325delFs

c.975delC

22 papers

NM_001127644.2

p.D219N

c.655G>A

20 papers

NM_001127644.2

p.R214H

c.641G>A

16 papers

NM_001127644.2

p.R214C

c.640C>T

15 papers

NM_001127644.2

p.G251S

c.751G>A

14 papers

NM_001127644.2

p.V287L

c.859G>T

13 papers

NM_001127644.2

p.S76R

c.226A>C

13 papers

NM_001127644.2

p.S76R

c.228T>A

13 papers

NM_001127644.2

p.S76R

c.228T>G

13 papers

NM_001127644.2

p.V287L

c.859G>C