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.W273R

c.817T>A

Surrounding Variants

1 paper

NM_000807.4

p.W273R

c.817T>C

1 paper

NM_000807.4

p.L267V

c.799C>G

3 papers

NM_000807.4

p.P280L

c.839C>T

5 papers

NM_000807.4

p.M263T

c.788T>C

5 papers

NM_000807.4

p.V284A

c.851T>C

1 paper

NM_000807.4

p.H245delFs

c.733delG

3 papers

NM_000807.4

p.G235Splc

c.704-104A>G

1 paper

NM_000807.4

p.G235Splc

c.703+1G>T

1 paper

NM_000807.4

p.S233I

c.698G>T

1 paper

NM_000807.4

p.I230delFs

c.690delA

2 papers

NM_000807.4

p.G226*

c.676G>T

1 paper

NM_000807.4

p.I225I

c.675C>T