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.G142R

c.424G>C

Surrounding Variants

1 paper

NM_000811.3

p.G142R

c.424G>A

1 paper

NM_000811.3

p.G142*

c.424G>T

1 paper

NM_000811.3

p.T143A

c.427A>G

1 paper

NM_000811.3

p.T143N

c.428C>A

1 paper

NM_000811.3

p.T147N

c.440C>A

1 paper

NM_000811.3

p.K134N

c.402A>T

1 paper

NM_000811.3

p.P132A

c.394C>G

2 papers

NM_000811.3

p.N128S

c.383A>G

1 paper

NM_000811.3

p.F118L

c.354C>A

1 paper

NM_000811.3

p.F118L

c.354C>G

1 paper

NM_000811.3

p.F118L

c.352T>C

1 paper

NM_000811.3

p.F118fs

c.352_353fs