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

2 papers

NM_000811.3

p.V32I

c.94G>A

Surrounding Variants

2 papers

NM_000811.3

p.V32F

c.94G>T

1 paper

NM_000811.3

p.E30V

c.89A>T

2 papers

NM_000811.3

p.F27V

c.79T>G

1 paper

NM_000811.3

p.N26T

c.77A>C

1 paper

NM_000811.3

p.L18Q

c.53T>A

18 papers

NM_000811.3

p.R46W

c.136C>T

2 papers

NM_000811.3

p.R46Q

c.137G>A

1 paper

NM_000811.3

p.R48W

c.142C>T

1 paper

NM_000811.3

p.E15K

c.43G>A

1 paper

NM_000811.3

p.P49Q

c.146C>A

1 paper

NM_000811.3

p.W13*

c.39G>A

2 papers

NM_000811.3

p.G52R

c.154G>A