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

1–12 of 78 variants

4 papers

NM_000808.4

p.T336M

c.1007C>T

4 papers

NM_000808.4

p.I342M

c.1026A>G

3 papers

NM_000808.4

p.Q242L

c.725A>T

2 papers

NM_000808.4

p.G47R

c.139G>C

2 papers

NM_000808.4

p.G47R

c.139G>A

2 papers

NM_000808.4

p.R73H

c.218G>A

2 papers

NM_000808.4

p.T166M

c.497C>T

2 papers

NM_000808.4

p.V309L

c.925G>C

2 papers

NM_000808.4

p.S459F

c.1376C>T

2 papers

NM_000808.4

p.Y474C

c.1421A>G

1 paper

NM_000808.4

p.M1T

c.2T>C

1 paper

NM_000808.4

p.M1I

c.3G>T