Varaico: Literature-Extracted Genetic Variants

GABRA3

65 papers

RefSeq Summary

GABA is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA-A receptors, which are ligand-gated chloride channels. Chloride conductance of these channels can be modulate...

Pfam Domains

Neur_chan_LBDaa 67–275UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 282–475UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit alpha3

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, alpha 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000808.4

p.Q242L

c.725A>T

Surrounding Variants

1 paper

NM_000808.4

p.R239H

c.716G>A

1 paper

NM_000808.4

p.V231L

c.691G>T

1 paper

NM_000808.4

p.V231L

c.691G>C

1 paper

NM_000808.4

p.R256W

c.766C>T

1 paper

NM_000808.4

p.W223*

c.669G>A

1 paper

NM_000808.4

p.W223*

c.668G>A