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.L225Q

c.674T>A

Surrounding Variants

1 paper

NM_000815.5

p.E224G

c.671A>G

1 paper

NM_000815.5

p.M226K

c.677T>A

2 papers

NM_000815.5

p.T223M

c.668C>T

1 paper

NM_000815.5

p.T222A

c.664A>G

30 papers

NM_000815.5

p.R220H

c.659G>A

12 papers

NM_000815.5

p.R220C

c.658C>T

1 paper

NM_000815.5

p.S230S

c.690C>T

1 paper

NM_000815.5

p.A231T

c.691G>A

2 papers

NM_000815.5

p.A231Splc

c.691+2T>G

1 paper

NM_000815.5

p.S218R

c.654C>A

1 paper

NM_000815.5

p.S218R

c.654C>G

1 paper

NM_000815.5

p.S218R

c.652A>C