Varaico: Literature-Extracted Genetic Variants

GABRA4

76 papers

RefSeq Summary

Gamma-aminobutyric acid (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 thes...

Pfam Domains

Neur_chan_LBDaa 48–256UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 263–538UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit alpha4

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, alpha 4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000809.4

p.L297F

c.889C>T

Surrounding Variants

3 papers

NM_000809.4

p.T300I

c.899C>T

1 paper

NM_000809.4

p.T300N

c.899C>A

1 paper

NM_000809.4

p.A316S

c.946G>T

1 paper

NM_000809.4

p.T317N

c.950C>A

1 paper

NM_000809.4

p.A318T

c.952G>A

1 paper

NM_000809.4

p.G292Splc

c.875-86T>A

1 paper

NM_000809.4

p.A339V

c.1016C>T

2 papers

NM_000809.4

p.F343L

c.1027T>C

2 papers

NM_000809.4

p.F343L

c.1029C>G

2 papers

NM_000809.4

p.F343L

c.1029C>A

1 paper

NM_000809.4

p.A351T

c.1051G>A

1 paper

NM_000809.4

p.T355A

c.1063A>G