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

79 papers

NM_001127644.2

p.A322D

c.965C>A

Surrounding Variants

1 paper

NM_001127644.2

p.A322T

c.964G>A

5 papers

NM_001127644.2

p.Y321C

c.962A>G

7 papers

NM_001127644.2

p.F325L

c.973T>C

25 papers

NM_001127644.2

p.F325delFs

c.975delC

7 papers

NM_001127644.2

p.F325L

c.975C>A

7 papers

NM_001127644.2

p.F325L

c.975C>G

6 papers

NM_001127644.2

p.V319M

c.955G>A

2 papers

NM_001127644.2

p.S326fs

c.976_977fs

2 papers

NM_001127644.2

p.S326fs

c.976_977fs

1 paper

NM_001127644.2

p.A318V

c.953C>T

1 paper

NM_001127644.2

p.A318T

c.952G>A

4 papers

NM_001127644.2

p.I317T

c.950T>C