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

5 papers

NM_000811.3

p.Q237R

c.710A>G

Surrounding Variants

1 paper

NM_000811.3

p.R238W

c.712A>T

1 paper

NM_000811.3

p.K239_G241delFs

c.715_721del7

1 paper

NM_000811.3

p.K239fs

c.715_716fs

1 paper

NM_000811.3

p.F243L

c.727T>C

1 paper

NM_000811.3

p.F243L

c.729C>A

1 paper

NM_000811.3

p.F243L

c.729C>G

1 paper

NM_000811.3

p.F243F

c.729C>T

1 paper

NM_000811.3

p.V228I

c.682G>A

1 paper

NM_000811.3

p.S258P

c.772T>C

1 paper

NM_000811.3

p.Q259K

c.775C>A

2 papers

NM_000811.3

p.Q259R

c.776A>G

1 paper

NM_000811.3

p.N265Y

c.793A>T