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.L281Q

c.842T>A

Surrounding Variants

3 papers

NM_000810.4

p.W280R

c.838T>A

3 papers

NM_000810.4

p.W280R

c.838T>C

1 paper

NM_000810.4

p.R283W

c.847C>T

1 paper

NM_000810.4

p.V286L

c.856G>C

1 paper

NM_000810.4

p.V286V

c.858C>A

1 paper

NM_000810.4

p.V272M

c.814G>A

1 paper

NM_000810.4

p.Y265F

c.794A>T

1 paper

NM_000810.4

p.I257F

c.769A>T

1 paper

NM_000810.4

p.H252Y

c.754C>T

2 papers

NM_000810.4

p.E243K

c.727G>A

3 papers

NM_000810.4

p.S238N

c.713G>A

1 paper

NM_000810.4

p.L227P

c.680T>C