Varaico: Literature-Extracted Genetic Variants

GABRA3

65 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 67–275UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 282–475UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit alpha3

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, alpha 3

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000808.4

p.M1T

c.2T>C

Surrounding Variants

1 paper

NM_000808.4

p.M1I

c.3G>T

1 paper

NM_000808.4

p.M1I

c.3G>C

1 paper

NM_000808.4

p.M1I

c.3G>A

1 paper

NM_000808.4

p.I2L

c.4A>T

1 paper

NM_000808.4

p.C9S

c.25T>A

1 paper

NM_000808.4

p.C9S

c.26G>C

1 paper

NM_000808.4

p.T12S

c.34A>T

1 paper

NM_000808.4

p.T12S

c.35C>G

1 paper

NM_000808.4

p.R34*

c.100C>T

1 paper

NM_000808.4

p.E36V

c.107A>T

1 paper

NM_000808.4

p.P37P

c.111C>T

1 paper

NM_000808.4

p.K42R

c.125A>G