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

1–12 of 117 variants

8 papers

NM_000807.4

p.N335H

c.1003A>C

7 papers

NM_000807.4

p.T292K

c.875C>A

5 papers

NM_000807.4

p.M263T

c.788T>C

5 papers

NM_000807.4

p.V284A

c.851T>C

5 papers

NM_000807.4

p.L291V

c.871C>G

5 papers

NM_000807.4

p.F325L

c.973T>C

5 papers

NM_000807.4

p.F325L

c.975C>G

5 papers

NM_000807.4

p.F325L

c.975C>A

3 papers

NM_000807.4

p.G235Splc

c.704-104A>G

3 papers

NM_000807.4

p.P280L

c.839C>T

2 papers

NM_000807.4

p.M1T

c.2T>C

2 papers

NM_000807.4

p.K36*

c.106A>T