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.V361I

c.1081G>A

Surrounding Variants

1 paper

NM_000815.5

p.F363L

c.1087T>C

1 paper

NM_000815.5

p.F363L

c.1089C>A

1 paper

NM_000815.5

p.F363L

c.1089C>G

1 paper

NM_000815.5

p.S366T

c.1096T>A

1 paper

NM_000815.5

p.D355E

c.1065C>A

1 paper

NM_000815.5

p.D355E

c.1065C>G

1 paper

NM_000815.5

p.A367V

c.1100C>T

1 paper

NM_000815.5

p.M354V

c.1060A>G

1 paper

NM_000815.5

p.A368fs

c.1102_1103fs

1 paper

NM_000815.5

p.A368insFs

c.1103_1104insT

2 papers

NM_000815.5

p.A368A

c.1104C>T

2 papers

NM_000815.5

p.G369S

c.1105G>A