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.R366C

c.1096C>T

Surrounding Variants

1 paper

NM_000810.4

p.K365T

c.1094A>C

2 papers

NM_000810.4

p.K363_K364Splc

c.1090-2A>G

1 paper

NM_000810.4

p.I369M

c.1107A>G

1 paper

NM_000810.4

p.L370I

c.1108C>A

1 paper

NM_000810.4

p.N375T

c.1124A>C

1 paper

NM_000810.4

p.P389P

c.1167G>A

1 paper

NM_000810.4

p.S402A

c.1204T>G

1 paper

NM_000810.4

p.V403A

c.1208T>C

1 paper

NM_000810.4

p.T412I

c.1235C>T

2 papers

NM_000810.4

p.S413F

c.1238C>T

1 paper

NM_000810.4

p.S429S

c.1287C>G

1 paper

NM_000810.4

p.V435L

c.1303G>C