Varaico: Literature-Extracted Genetic Variants

GABRA6

190 papers

RefSeq Summary

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 these channels can be modulate...

Pfam Domains

Neur_chan_LBDaa 32–240UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 247–360UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit alpha6

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, alpha 6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

6 papers

NM_000811.3

p.K173T

c.518A>C

Surrounding Variants

1 paper

NM_000811.3

p.G175W

c.523G>T

2 papers

NM_000811.3

p.P171L

c.512C>T

1 paper

NM_000811.3

p.D166D

c.498T>C

1 paper

NM_000811.3

p.F163V

c.487T>G

1 paper

NM_000811.3

p.D155Y

c.463G>T

1 paper

NM_000811.3

p.T147N

c.440C>A

1 paper

NM_000811.3

p.T143N

c.428C>A

1 paper

NM_000811.3

p.T143A

c.427A>G

1 paper

NM_000811.3

p.G142R

c.424G>A

1 paper

NM_000811.3

p.G142R

c.424G>C

1 paper

NM_000811.3

p.G142*

c.424G>T

1 paper

NM_000811.3

p.K134N

c.402A>T