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.R298C

c.892C>T

Surrounding Variants

1 paper

NM_000815.5

p.P302L

c.905C>T

1 paper

NM_000815.5

p.R303Q

c.908G>A

2 papers

NM_000815.5

p.T292M

c.875C>T

4 papers

NM_000815.5

p.T291I

c.872C>T

1 paper

NM_000815.5

p.V287L

c.859G>C

1 paper

NM_000815.5

p.V287L

c.859G>T

1 paper

NM_000815.5

p.T286M

c.857C>T

1 paper

NM_000815.5

p.L310M

c.928C>A

1 paper

NM_000815.5

p.D311N

c.931G>A

1 paper

NM_000815.5

p.I284T

c.851T>C

2 papers

NM_000815.5

p.V312I

c.934G>A

1 paper

NM_000815.5

p.G283Splc

c.848-2A>G