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

10 papers

NM_000809.4

p.L26M

c.76C>A

Surrounding Variants

1 paper

NM_000809.4

p.C25F

c.74G>T

1 paper

NM_000809.4

p.A27S

c.79G>T

1 paper

NM_000809.4

p.L21L

c.63G>T

3 papers

NM_000809.4

p.A19T

c.55G>A

1 paper

NM_000809.4

p.A11S

c.31G>T

1 paper

NM_000809.4

p.A9T

c.25G>A

1 paper

NM_000809.4

p.K5K

c.15G>A

1 paper

NM_000809.4

p.M1I

c.3G>C

1 paper

NM_000809.4

p.C29Splc

c.86+79C>T