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

2 papers

NM_001127644.2

p.F93delFs

c.279delC

Surrounding Variants

5 papers

NM_001127644.2

p.R94S

c.280C>A

5 papers

NM_001127644.2

p.R94C

c.280C>T

4 papers

NM_001127644.2

p.F92L

c.276T>A

4 papers

NM_001127644.2

p.F92L

c.276T>G

5 papers

NM_001127644.2

p.R94H

c.281G>A

3 papers

NM_001127644.2

p.F92S

c.275T>C

2 papers

NM_001127644.2

p.R94R

c.282T>A

4 papers

NM_001127644.2

p.F92L

c.274T>C

1 paper

NM_001127644.2

p.F92_F93delFs

c.274_277del4

1 paper

NM_001127644.2

p.S96C

c.286A>T

2 papers

NM_001127644.2

p.D90G

c.269A>G

5 papers

NM_001127644.2

p.D90V

c.269A>T