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.G150S

c.448G>A

Surrounding Variants

1 paper

NM_000815.5

p.V151M

c.451G>A

1 paper

NM_000815.5

p.R145Q

c.434G>A

1 paper

NM_000815.5

p.R145L

c.434G>T

1 paper

NM_000815.5

p.R145W

c.433C>T

2 papers

NM_000815.5

p.R157*

c.469C>T

1 paper

NM_000815.5

p.L143F

c.427C>T

1 paper

NM_000815.5

p.R157Q

c.470G>A

1 paper

NM_000815.5

p.K142R

c.425A>G

1 paper

NM_000815.5

p.K142*

c.424A>T

1 paper

NM_000815.5

p.D136N

c.406G>A

1 paper

NM_000815.5

p.H135H

c.405C>T

1 paper

NM_000815.5

p.S131L

c.392C>T