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

35 papers

NM_000815.5

p.E177A

c.530A>C

Surrounding Variants

1 paper

NM_000815.5

p.E177V

c.530A>T

1 paper

NM_000815.5

p.C178*

c.534C>A

1 paper

NM_000815.5

p.E175K

c.523G>A

1 paper

NM_000815.5

p.D174E

c.522C>A

1 paper

NM_000815.5

p.D174E

c.522C>G

1 paper

NM_000815.5

p.M173V

c.517A>G

1 paper

NM_000815.5

p.L182_E183insC

c.544_548ins3

2 papers

NM_000815.5

p.D167N

c.499G>A

2 papers

NM_000815.5

p.M166I

c.498G>A

2 papers

NM_000815.5

p.M166I

c.498G>C

2 papers

NM_000815.5

p.M166I

c.498G>T

1 paper

NM_000815.5

p.D165N

c.493G>A