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

3 papers

NM_001127644.2

p.F127V

c.379T>G

Surrounding Variants

5 papers

NM_001127644.2

p.D125G

c.374A>G

7 papers

NM_001127644.2

p.H129Y

c.385C>T

2 papers

NM_001127644.2

p.D125N

c.373G>A

1 paper

NM_001127644.2

p.D125H

c.373G>C

1 paper

NM_001127644.2

p.H129P

c.386A>C

1 paper

NM_001127644.2

p.H129R

c.386A>G

2 papers

NM_001127644.2

p.P124L

c.371C>T

1 paper

NM_001127644.2

p.K132*

c.394A>T

1 paper

NM_001127644.2

p.W122R

c.364T>A

1 paper

NM_001127644.2

p.W122R

c.364T>C

1 paper

NM_001127644.2

p.I121V

c.361A>G

1 paper

NM_001127644.2

p.S134S

c.402A>T