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

4 papers

NM_000808.4

p.I342M

c.1026A>G

Surrounding Variants

1 paper

NM_000808.4

p.V344I

c.1030G>A

1 paper

NM_000808.4

p.Y346C

c.1037A>G

4 papers

NM_000808.4

p.T336M

c.1007C>T

1 paper

NM_000808.4

p.S324G

c.970A>G

1 paper

NM_000808.4

p.M318K

c.953T>A

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.L316F

c.946C>T

1 paper

NM_000808.4

p.T314P

c.940A>C

1 paper

NM_000808.4

p.V309A

c.926T>C

2 papers

NM_000808.4

p.V309L

c.925G>C

1 paper

NM_000808.4

p.R301G

c.901A>G