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.P59L

c.176C>T

Surrounding Variants

1 paper

NM_000807.4

p.P59fs

c.175_176fs

1 paper

NM_000807.4

p.D54N

c.160G>A

1 paper

NM_000807.4

p.R48K

c.143G>A

1 paper

NM_000807.4

p.T40N

c.119C>A

2 papers

NM_000807.4

p.T40A

c.118A>G

2 papers

NM_000807.4

p.K36*

c.106A>T

1 paper

NM_000807.4

p.A28T

c.82G>A

1 paper

NM_000807.4

p.L14F

c.40C>T

1 paper

NM_000807.4

p.K4_F12delFs

c.12_36del25

1 paper

NM_000807.4

p.Y8*

c.24C>G

1 paper

NM_000807.4

p.Y8*

c.24C>A

1 paper

NM_000807.4

p.I7_Y8insFs

c.21_22insG