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

2 papers

NM_000811.3

p.A394V

c.1181C>T

Surrounding Variants

1 paper

NM_000811.3

p.V402L

c.1204G>C

1 paper

NM_000811.3

p.V402Fs

c.1206delinsTTCATFs

1 paper

NM_000811.3

p.E386K

c.1156G>A

4 papers

NM_000811.3

p.P404S

c.1210C>T

1 paper

NM_000811.3

p.P405L

c.1214C>T

1 paper

NM_000811.3

p.P406S

c.1216C>T

1 paper

NM_000811.3

p.I381T

c.1142T>C

2 papers

NM_000811.3

p.S408L

c.1223C>T

1 paper

NM_000811.3

p.P380L

c.1139C>T

1 paper

NM_000811.3

p.P409S

c.1225C>T

1 paper

NM_000811.3

p.P409delFs

c.1227delA

1 paper

NM_000811.3

p.A410T

c.1228G>A