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.R20_G21ins2

c.60_61ins6

Surrounding Variants

1 paper

NM_000815.5

p.G21S

c.61G>A

1 paper

NM_000815.5

p.T22I

c.65C>T

1 paper

NM_000815.5

p.R23*

c.67A>T

1 paper

NM_000815.5

p.L14L

c.42C>G

1 paper

NM_000815.5

p.L11P

c.32T>C

1 paper

NM_000815.5

p.L11insFs

c.32dupT

1 paper

NM_000815.5

p.L7insFs

c.19_20insG

1 paper

NM_000815.5

p.R6G

c.16C>G

1 paper

NM_000815.5

p.A5G

c.14C>G

1 paper

NM_000815.5

p.A3E

c.8C>A

4 papers

NM_000815.5

p.A3S

c.7G>T

1 paper

NM_000815.5

p.M1V

c.1A>G