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.T88T

c.264G>A

Surrounding Variants

1 paper

NM_000815.5

p.T88M

c.263C>T

1 paper

NM_000815.5

p.V89L

c.265G>C

1 paper

NM_000815.5

p.V89L

c.265G>T

1 paper

NM_000815.5

p.M87L

c.259A>C

1 paper

NM_000815.5

p.M87V

c.259A>G

1 paper

NM_000815.5

p.M87L

c.259A>T

1 paper

NM_000815.5

p.H92Y

c.274C>T

1 paper

NM_000815.5

p.R99K

c.296G>A

1 paper

NM_000815.5

p.Y102F

c.305A>T

1 paper

NM_000815.5

p.T108S

c.322A>T

3 papers

NM_000815.5

p.G110G

c.330T>C

1 paper

NM_000815.5

p.L111R

c.332T>G