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.R221*

c.661A>T

Surrounding Variants

1 paper

NM_000810.4

p.R221K

c.662G>A

1 paper

NM_000810.4

p.R221T

c.662G>C

1 paper

NM_000810.4

p.L222P

c.665T>C

1 paper

NM_000810.4

p.E217G

c.650A>G

1 paper

NM_000810.4

p.A216V

c.647C>T

1 paper

NM_000810.4

p.L227P

c.680T>C

2 papers

NM_000810.4

p.W205*

c.615G>A

2 papers

NM_000810.4

p.W205*

c.614G>A

5 papers

NM_000810.4

p.V204I

c.610G>A

3 papers

NM_000810.4

p.S238N

c.713G>A

1 paper

NM_000810.4

p.V202I

c.604G>A

1 paper

NM_000810.4

p.E200G

c.599A>G