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

1–12 of 243 variants

35 papers

NM_000815.5

p.E177A

c.530A>C

30 papers

NM_000815.5

p.R220H

c.659G>A

12 papers

NM_000815.5

p.R220C

c.658C>T

4 papers

NM_000815.5

p.A3S

c.7G>T

4 papers

NM_000815.5

p.T291I

c.872C>T

3 papers

NM_000815.5

p.V64M

c.190G>A

3 papers

NM_000815.5

p.G110G

c.330T>C

3 papers

NM_000815.5

p.G389A

c.1166G>C

2 papers

NM_000815.5

p.A24V

c.71C>T

2 papers

NM_000815.5

p.V32M

c.94G>A

2 papers

NM_000815.5

p.S39P

c.115T>C

2 papers

NM_000815.5

p.S39F

c.116C>T