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.G395R

c.1183G>C

Surrounding Variants

1 paper

NM_000815.5

p.G395R

c.1183G>A

1 paper

NM_000815.5

p.R392G

c.1174A>G

1 paper

NM_000815.5

p.T398_G399delFs

c.1194_1195delAG

1 paper

NM_000815.5

p.G399R

c.1195G>A

1 paper

NM_000815.5

p.G399R

c.1195G>C

1 paper

NM_000815.5

p.E400fs

c.1198_1199fs

3 papers

NM_000815.5

p.G389A

c.1166G>C

1 paper

NM_000815.5

p.T401R

c.1202C>G

1 paper

NM_000815.5

p.T401M

c.1202C>T

1 paper

NM_000815.5

p.M388T

c.1163T>C

1 paper

NM_000815.5

p.G385E

c.1154G>A

1 paper

NM_000815.5

p.G405E

c.1214G>A