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.F323Y

c.968T>A

Surrounding Variants

1 paper

NM_000807.4

p.F323F

c.969T>C

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

1 paper

NM_000807.4

p.S326fs

c.976_977fs

1 paper

NM_000807.4

p.E330*

c.988G>T

1 paper

NM_000807.4

p.W315R

c.943T>C

8 papers

NM_000807.4

p.N335H

c.1003A>C

1 paper

NM_000807.4

p.A308V

c.923C>T

1 paper

NM_000807.4

p.K339insFs

c.1016_1017insT

1 paper

NM_000807.4

p.K306N

c.918A>T

1 paper

NM_000807.4

p.K306N

c.918A>C