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.T187M

c.560C>T

Surrounding Variants

1 paper

NM_000811.3

p.Y186*

c.558T>A

1 paper

NM_000811.3

p.Y186*

c.558T>G

2 papers

NM_000811.3

p.W188*

c.563G>A

2 papers

NM_000811.3

p.W188*

c.564G>A

1 paper

NM_000811.3

p.Y186N

c.556T>A

1 paper

NM_000811.3

p.I185I

c.555A>T

1 paper

NM_000811.3

p.G191delins

c.571_572delinsAA

1 paper

NM_000811.3

p.E183K

c.547G>A

1 paper

NM_000811.3

p.P192L

c.575C>T

2 papers

NM_000811.3

p.P180H

c.539C>A

1 paper

NM_000811.3

p.P180L

c.539C>T

2 papers

NM_000811.3

p.Y194*

c.582C>A