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

1–12 of 194 variants

18 papers

NM_000811.3

p.R46W

c.136C>T

6 papers

NM_000811.3

p.K173T

c.518A>C

5 papers

NM_000811.3

p.R84H

c.251G>A

5 papers

NM_000811.3

p.T187M

c.560C>T

5 papers

NM_000811.3

p.Q237R

c.710A>G

4 papers

NM_000811.3

p.P404S

c.1210C>T

3 papers

NM_000811.3

p.V448V

c.1344C>G

2 papers

NM_000811.3

p.F27V

c.79T>G

2 papers

NM_000811.3

p.V32I

c.94G>A

2 papers

NM_000811.3

p.V32F

c.94G>T

2 papers

NM_000811.3

p.R46Q

c.137G>A

2 papers

NM_000811.3

p.G52R

c.154G>A