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.N65T

c.194A>C

Surrounding Variants

1 paper

NM_000815.5

p.V66M

c.196G>A

1 paper

NM_000815.5

p.V66A

c.197T>C

3 papers

NM_000815.5

p.V64M

c.190G>A

1 paper

NM_000815.5

p.V64fs

c.190_191fs

1 paper

NM_000815.5

p.L68I

c.202C>A

1 paper

NM_000815.5

p.G61insFs

c.182_183insC

1 paper

NM_000815.5

p.D76N

c.226G>A

1 paper

NM_000815.5

p.H77Y

c.229C>T

2 papers

NM_000815.5

p.I78N

c.233T>A

1 paper

NM_000815.5

p.E80K

c.238G>A

1 paper

NM_000815.5

p.N82D

c.244A>G

1 paper

NM_000815.5

p.M83L

c.247A>T