Varaico: Literature-Extracted Genetic Variants

GABRA5

109 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 49–257UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 264–445UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit alpha5

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, alpha 5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_000810.4

p.M1I

c.3G>C

Surrounding Variants

2 papers

NM_000810.4

p.M1I

c.3G>A

2 papers

NM_000810.4

p.M1I

c.3G>T

1 paper

NM_000810.4

p.L24L

c.70T>C

1 paper

NM_000810.4

p.G29Splc

c.86+1G>A