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.G30insFs

c.88dupG

Surrounding Variants

1 paper

NM_002043.5

p.K36*

c.106A>T

1 paper

NM_002043.5

p.E33_K36delFs

c.99_108del10

1 paper

NM_002043.5

p.P23H

c.68C>A

1 paper

NM_002043.5

p.E19K

c.55G>A

2 papers

NM_002043.5

p.V18M

c.52G>A