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

1 paper

NM_001127644.2

p.F92_F93delFs

c.274_277del4

Surrounding Variants

4 papers

NM_001127644.2

p.F92L

c.274T>C

3 papers

NM_001127644.2

p.F92S

c.275T>C

4 papers

NM_001127644.2

p.F92L

c.276T>A

4 papers

NM_001127644.2

p.F92L

c.276T>G

2 papers

NM_001127644.2

p.D90G

c.269A>G

5 papers

NM_001127644.2

p.D90V

c.269A>T

4 papers

NM_001127644.2

p.D90N

c.268G>A

6 papers

NM_001127644.2

p.D90H

c.268G>C

5 papers

NM_001127644.2

p.D90Y

c.268G>T

2 papers

NM_001127644.2

p.F93delFs

c.279delC

5 papers

NM_001127644.2

p.R94S

c.280C>A

5 papers

NM_001127644.2

p.R94C

c.280C>T