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.T294K

c.881C>A

Surrounding Variants

1 paper

NM_000807.4

p.L296I

c.886C>A

1 paper

NM_000807.4

p.T292I

c.875C>T

7 papers

NM_000807.4

p.T292K

c.875C>A

1 paper

NM_000807.4

p.L291P

c.872T>C

5 papers

NM_000807.4

p.L291V

c.871C>G

1 paper

NM_000807.4

p.T288A

c.862A>G

1 paper

NM_000807.4

p.V287L

c.859G>T

1 paper

NM_000807.4

p.V287L

c.859G>C

1 paper

NM_000807.4

p.L304V

c.910C>G

1 paper

NM_000807.4

p.K306N

c.918A>T

1 paper

NM_000807.4

p.K306N

c.918A>C

1 paper

NM_000807.4

p.A308V

c.923C>T