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.R379W

c.1135C>T

Surrounding Variants

1 paper

NM_000815.5

p.R379Q

c.1136G>A

1 paper

NM_000815.5

p.R381C

c.1141C>T

1 paper

NM_000815.5

p.R382C

c.1144C>T

1 paper

NM_000815.5

p.P384L

c.1151C>T

1 paper

NM_000815.5

p.G385E

c.1154G>A

1 paper

NM_000815.5

p.Q372R

c.1115A>G

2 papers

NM_000815.5

p.V370I

c.1108G>A

1 paper

NM_000815.5

p.M388T

c.1163T>C

2 papers

NM_000815.5

p.G369S

c.1105G>A

1 paper

NM_000815.5

p.G369C

c.1105G>T

2 papers

NM_000815.5

p.A368A

c.1104C>T

3 papers

NM_000815.5

p.G389A

c.1166G>C