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.I48L

c.142A>C

Surrounding Variants

1 paper

NM_000810.4

p.I48L

c.142A>T

1 paper

NM_000810.4

p.T42T

c.126C>G

1 paper

NM_000810.4

p.L57F

c.171G>C

1 paper

NM_000810.4

p.L57F

c.171G>T

2 papers

NM_000810.4

p.S36C

c.106A>T

1 paper

NM_000810.4

p.T35N

c.104C>A

1 paper

NM_000810.4

p.T35P

c.103A>C

1 paper

NM_000810.4

p.G69G

c.207A>G

1 paper

NM_000810.4

p.I72M

c.216C>G

1 paper

NM_000810.4

p.I79L

c.235A>C

1 paper

NM_000810.4

p.T90M

c.269C>T

1 paper

NM_000810.4

p.D97V

c.290A>T