Varaico: Literature-Extracted Genetic Variants

GABRA2

104 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 42–250UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 257–358UCSCNeurotransmitter-gated ion-channel transmembrane region

Neur_chan_membaa 343–437UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit alpha2

HGNC Previous Name

gamma-aminobutyric acid (GABA) A receptor, alpha 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_000807.4

p.I230delFs

c.690delA

Surrounding Variants

1 paper

NM_000807.4

p.S233I

c.698G>T

1 paper

NM_000807.4

p.G235Splc

c.703+1G>T

2 papers

NM_000807.4

p.G226*

c.676G>T

1 paper

NM_000807.4

p.I225I

c.675C>T

2 papers

NM_000807.4

p.D219N

c.655G>A

1 paper

NM_000807.4

p.Q217insFs

c.649_650insC

1 paper

NM_000807.4

p.Q217delFs

c.649delG

1 paper

NM_000807.4

p.Q217*

c.649C>T

1 paper

NM_000807.4

p.G212G

c.636C>T

1 paper

NM_000807.4

p.P210L

c.629C>T

1 paper

NM_000807.4

p.V208A

c.623T>C

1 paper

NM_000807.4

p.T199A

c.595A>G