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

2 papers

NM_000815.5

p.V32M

c.94G>A

Surrounding Variants

1 paper

NM_000815.5

p.D30N

c.88G>A

1 paper

NM_000815.5

p.S34F

c.101C>T

1 paper

NM_000815.5

p.G29S

c.85G>A

1 paper

NM_000815.5

p.L36R

c.107T>G

2 papers

NM_000815.5

p.S39P

c.115T>C

2 papers

NM_000815.5

p.S39F

c.116C>T

1 paper

NM_000815.5

p.A24A

c.72G>A

2 papers

NM_000815.5

p.A24V

c.71C>T

1 paper

NM_000815.5

p.L44R

c.131T>G

1 paper

NM_000815.5

p.G46R

c.136G>A

1 paper

NM_000815.5

p.G46R

c.136G>C

1 paper

NM_000815.5

p.G46E

c.137G>A