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

1 paper

NM_000810.4

p.T301R

c.902C>G

Surrounding Variants

3 papers

NM_000810.4

p.T301M

c.902C>T

1 paper

NM_000810.4

p.T299I

c.896C>T

6 papers

NM_000810.4

p.V294L

c.880G>C

3 papers

NM_000810.4

p.V294F

c.880G>T

1 paper

NM_000810.4

p.A315A

c.945C>T

1 paper

NM_000810.4

p.A317T

c.949G>A

1 paper

NM_000810.4

p.F323L

c.967T>C

1 paper

NM_000810.4

p.F323L

c.969C>A

1 paper

NM_000810.4

p.F323L

c.969C>G

2 papers

NM_000810.4

p.V326M

c.976G>A

1 paper

NM_000810.4

p.A334G

c.1001C>G

1 paper

NM_000810.4

p.A334A

c.1002G>A