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.L407V

c.1219C>G

Surrounding Variants

1 paper

NM_000808.4

p.Y403*

c.1209T>G

1 paper

NM_000808.4

p.Y403*

c.1209T>A

1 paper

NM_000808.4

p.S414F

c.1241C>T

1 paper

NM_000808.4

p.S393I

c.1178G>T

1 paper

NM_000808.4

p.P443P

c.1329G>C

1 paper

NM_000808.4

p.S453C

c.1357A>T

1 paper

NM_000808.4

p.D456N

c.1366G>A

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.Y474*

c.1422T>G

1 paper

NM_000808.4

p.Y474*

c.1422T>A

1 paper

NM_000808.4

p.R490C

c.1468C>T