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.K344M

c.1031A>T

Surrounding Variants

1 paper

NM_000815.5

p.A343P

c.1027G>C

1 paper

NM_000815.5

p.R351G

c.1051A>G

1 paper

NM_000815.5

p.D336N

c.1006G>A

2 papers

NM_000815.5

p.A335T

c.1003G>A

1 paper

NM_000815.5

p.N334N

c.1002C>T

1 paper

NM_000815.5

p.N334S

c.1001A>G

1 paper

NM_000815.5

p.A331G

c.992C>G

1 paper

NM_000815.5

p.A329T

c.985G>A

1 paper

NM_000815.5

p.L325R

c.974T>G

1 paper

NM_000815.5

p.A324T

c.970G>A

1 paper

NM_000815.5

p.C317Y

c.950G>A

2 papers

NM_000815.5

p.V312I

c.934G>A