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.R408H

c.1223G>A

Surrounding Variants

1 paper

NM_000815.5

p.R408C

c.1222C>T

1 paper

NM_000815.5

p.S409A

c.1225T>G

1 paper

NM_000815.5

p.G410V

c.1229G>T

1 paper

NM_000815.5

p.G405E

c.1214G>A

1 paper

NM_000815.5

p.G405A

c.1214G>C

1 paper

NM_000815.5

p.Q412fs

c.1234_1235fs

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.R416C

c.1246C>T

1 paper

NM_000815.5

p.R416H

c.1247G>A

1 paper

NM_000815.5

p.R416P

c.1247G>C

1 paper

NM_000815.5

p.E400fs

c.1198_1199fs