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

2 papers

NM_000808.4

p.R73H

c.218G>A

Surrounding Variants

1 paper

NM_000808.4

p.D76Y

c.226G>T

1 paper

NM_000808.4

p.L82L

c.246G>A

1 paper

NM_000808.4

p.S60G

c.178A>G

1 paper

NM_000808.4

p.H52R

c.155A>G

2 papers

NM_000808.4

p.G47R

c.139G>C

2 papers

NM_000808.4

p.G47R

c.139G>A

1 paper

NM_000808.4

p.G47Splc

c.141-26T>A