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.T166M

c.497C>T

Surrounding Variants

1 paper

NM_000808.4

p.H154Y

c.460C>T

1 paper

NM_000808.4

p.L179V

c.535C>G

1 paper

NM_000808.4

p.M183I

c.549G>T

1 paper

NM_000808.4

p.M183I

c.549G>C

1 paper

NM_000808.4

p.M183I

c.549G>A

1 paper

NM_000808.4

p.L142V

c.424C>G

1 paper

NM_000808.4

p.L141P

c.422T>C

1 paper

NM_000808.4

p.D124N

c.370G>A

1 paper

NM_000808.4

p.Q120H

c.360G>C

1 paper

NM_000808.4

p.R184Splc

c.551+8376A>G