Varaico: Literature-Extracted Genetic Variants

GABRD

153 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 43–247UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 254–414UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit delta

HGNC Alias Symbol

GABAARdelta

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000815.5

p.I192V

c.574A>G

Surrounding Variants

1 paper

NM_000815.5

p.D191G

c.572A>G

1 paper

NM_000815.5

p.V193I

c.577G>A

1 paper

NM_000815.5

p.S189L

c.566C>T

1 paper

NM_000815.5

p.S197L

c.590C>T

1 paper

NM_000815.5

p.Y185Y

c.555C>T

1 paper

NM_000815.5

p.S199G

c.595A>G

1 paper

NM_000815.5

p.S199N

c.596G>A

1 paper

NM_000815.5

p.Q200R

c.599A>G

1 paper

NM_000815.5

p.H202D

c.604C>G

1 paper

NM_000815.5

p.G205R

c.613G>A

1 paper

NM_000815.5

p.L211V

c.631C>G

1 paper

NM_000815.5

p.Q213R

c.638A>G