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

1 paper

NM_000811.3

p.S258P

c.772T>C

Surrounding Variants

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

1 paper

NM_000811.3

p.N265S

c.794A>G

1 paper

NM_000811.3

p.E267A

c.800A>C

1 paper

NM_000811.3

p.E267G

c.800A>G

2 papers

NM_000811.3

p.V269I

c.805G>A

1 paper

NM_000811.3

p.P270S

c.808C>T

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.F243L

c.727T>C