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.Q419R

c.1256A>G

Surrounding Variants

1 paper

NM_000811.3

p.R422*

c.1264C>T

1 paper

NM_000811.3

p.R422Q

c.1265G>A

1 paper

NM_000811.3

p.R422L

c.1265G>T

1 paper

NM_000811.3

p.S415G

c.1243A>G

1 paper

NM_000811.3

p.T414N

c.1241C>A

1 paper

NM_000811.3

p.P426Q

c.1277C>A

2 papers

NM_000811.3

p.P426R

c.1277C>G

1 paper

NM_000811.3

p.A410A

c.1230C>A

1 paper

NM_000811.3

p.A410T

c.1228G>A

1 paper

NM_000811.3

p.A410fs

c.1228_1229fs

1 paper

NM_000811.3

p.P409delFs

c.1227delA

1 paper

NM_000811.3

p.P409S

c.1225C>T