Varaico: Literature-Extracted Genetic Variants

GABRR2

44 papers

RefSeq Summary

Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this ge...

Pfam Domains

Neur_chan_LBDaa 55–261UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 268–461UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit rho2

HGNC Previous Name

gamma-aminobutyric acid (GABA) receptor, rho 2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002043.5

p.P291A

c.871C>G

Surrounding Variants

2 papers

NM_002043.5

p.V294I

c.880G>A

3 papers

NM_002043.5

p.R287H

c.860G>A

1 paper

NM_002043.5

p.V294_S295del1

c.882_884delGAA

1 paper

NM_002043.5

p.F264del1

c.790_791delGAA

1 paper

NM_002043.5

p.F263L

c.789C>G

1 paper

NM_002043.5

p.F263L

c.789C>A

1 paper

NM_002043.5

p.F263L

c.787T>C

1 paper

NM_002043.5

p.I253insFs

c.758_759ins4

1 paper

NM_002043.5

p.G246Splc

c.737-26C>T

1 paper

NM_002043.5

p.I298M

c.894C>G

1 paper

NM_002043.5

p.V318D

c.953T>A

4 papers

NM_002043.5

p.V321I

c.961G>A