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.V81delFs

c.241delG

Surrounding Variants

1 paper

NM_000811.3

p.V81fs

c.241_242fs

1 paper

NM_000811.3

p.D80N

c.238G>A

1 paper

NM_000811.3

p.F83fs

c.247_248fs

2 papers

NM_000811.3

p.R84C

c.250C>T

5 papers

NM_000811.3

p.R84H

c.251G>A

1 paper

NM_000811.3

p.E76Q

c.226G>C

2 papers

NM_000811.3

p.Q85H

c.255G>C

2 papers

NM_000811.3

p.Q85H

c.255G>T

1 paper

NM_000811.3

p.D89E

c.267T>A

1 paper

NM_000811.3

p.D89E

c.267T>G

1 paper

NM_000811.3

p.E90A

c.269A>C

1 paper

NM_000811.3

p.K93T

c.278A>C