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

1 paper

NM_000808.4

p.R301G

c.901A>G

Surrounding Variants

1 paper

NM_000808.4

p.S293L

c.878C>T

2 papers

NM_000808.4

p.V309L

c.925G>C

1 paper

NM_000808.4

p.V309A

c.926T>C

1 paper

NM_000808.4

p.L292V

c.874C>G

1 paper

NM_000808.4

p.Y277C

c.830A>G

1 paper

NM_000808.4

p.I275insFs

c.823dupA

1 paper

NM_000808.4

p.R273*

c.817C>T

1 paper

NM_000808.4

p.T314P

c.940A>C

1 paper

NM_000808.4

p.L316F

c.946C>T

1 paper

NM_000808.4

p.T317I

c.950C>T

1 paper

NM_000808.4

p.T317N

c.950C>A

1 paper

NM_000808.4

p.M318K

c.953T>A