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.V307L

c.919G>C

Surrounding Variants

2 papers

NM_001127644.2

p.V307L

c.919G>T

5 papers

NM_001127644.2

p.V307A

c.920T>C

13 papers

NM_001127644.2

p.K306T

c.917A>C

6 papers

NM_001127644.2

p.A308T

c.922G>A

4 papers

NM_001127644.2

p.A308D

c.923C>A

7 papers

NM_001127644.2

p.P305L

c.914C>T

1 paper

NM_001127644.2

p.P305T

c.913C>A

2 papers

NM_001127644.2

p.T311A

c.931A>G

4 papers

NM_001127644.2

p.T311I

c.932C>T

4 papers

NM_001127644.2

p.A312T

c.934G>A

1 paper

NM_001127644.2

p.A312P

c.934G>C

4 papers

NM_001127644.2

p.R301K

c.902G>A