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.S126R

c.376A>C

Surrounding Variants

1 paper

NM_000810.4

p.S126R

c.378C>A

1 paper

NM_000810.4

p.S126R

c.378C>G

1 paper

NM_000810.4

p.W129R

c.385T>C

1 paper

NM_000810.4

p.D132N

c.394G>A

1 paper

NM_000810.4

p.T133M

c.398C>T

1 paper

NM_000810.4

p.H136Y

c.406C>T

1 paper

NM_000810.4

p.N137delFs

c.410delA

1 paper

NM_000810.4

p.G113A

c.338G>C

1 paper

NM_000810.4

p.R108T

c.323G>C

1 paper

NM_000810.4

p.E107Q

c.319G>C

1 paper

NM_000810.4

p.T148M

c.443C>T

1 paper

NM_000810.4

p.P149T

c.445C>A