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.L121Q

c.362T>A

Surrounding Variants

2 papers

NM_000815.5

p.P122A

c.364C>G

2 papers

NM_000815.5

p.D123N

c.367G>A

1 paper

NM_000815.5

p.F125S

c.374T>C

1 paper

NM_000815.5

p.V116M

c.346G>A

1 paper

NM_000815.5

p.V127M

c.379G>A

1 paper

NM_000815.5

p.F115L

c.343T>C

1 paper

NM_000815.5

p.R114H

c.341G>A

1 paper

NM_000815.5

p.R114C

c.340C>T

1 paper

NM_000815.5

p.S113G

c.337A>G

2 papers

NM_000815.5

p.D112V

c.335A>T

1 paper

NM_000815.5

p.S131L

c.392C>T

1 paper

NM_000815.5

p.L111R

c.332T>G