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

1–12 of 98 variants

6 papers

NM_000810.4

p.V294L

c.880G>C

5 papers

NM_000810.4

p.V204I

c.610G>A

5 papers

NM_000810.4

p.P453L

c.1358C>T

3 papers

NM_000810.4

p.S238N

c.713G>A

3 papers

NM_000810.4

p.W280R

c.838T>A

3 papers

NM_000810.4

p.W280R

c.838T>C

3 papers

NM_000810.4

p.V294F

c.880G>T

3 papers

NM_000810.4

p.T301M

c.902C>T

2 papers

NM_000810.4

p.M1I

c.3G>A

2 papers

NM_000810.4

p.M1I

c.3G>C

2 papers

NM_000810.4

p.M1I

c.3G>T

2 papers

NM_000810.4

p.S36C

c.106A>T