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

25 papers

NM_001127644.2

p.R112Q

c.335G>A

Surrounding Variants

3 papers

NM_001127644.2

p.R112L

c.335G>T

7 papers

NM_001127644.2

p.R112W

c.334C>T

5 papers

NM_001127644.2

p.L111P

c.332T>C

5 papers

NM_001127644.2

p.L113F

c.339A>C

5 papers

NM_001127644.2

p.L113F

c.339A>T

1 paper

NM_001127644.2

p.N114D

c.340A>G

4 papers

NM_001127644.2

p.N115D

c.343A>G

5 papers

NM_001127644.2

p.T109I

c.326C>T

2 papers

NM_001127644.2

p.L116V

c.346C>G

2 papers

NM_001127644.2

p.L116R

c.347T>G

4 papers

NM_001127644.2

p.M108V

c.322A>G

1 paper

NM_001127644.2

p.M108L

c.322A>T