Varaico: Literature-Extracted Genetic Variants

GABRR3

36 papers

RefSeq Summary

The neurotransmitter gamma-aminobutyric acid (GABA) functions in the central nervous system to regulate synaptic transmission of neurons. This gene encodes one of three related subunits, which combine...

Pfam Domains

Neur_chan_LBDaa 58–267UCSCNeurotransmitter-gated ion-channel ligand binding domain

Neur_chan_membaa 274–427UCSCNeurotransmitter-gated ion-channel transmembrane region

Gene Aliases

HGNC Name

gamma-aminobutyric acid type A receptor subunit rho3

HGNC Previous Names

gamma-aminobutyric acid (GABA) receptor, rho 3; gamma-aminobutyric acid type A receptor subunit rho3 (gene/pseudogene)

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001105580.3

p.C42Splc

c.125+3A>G

Surrounding Variants

1 paper

NM_001105580.3

p.K39R

c.116A>G

1 paper

NM_001105580.3

p.Q32H

c.96G>C

1 paper

NM_001105580.3

p.K18I

c.53A>T

1 paper

NM_001105580.3

p.I15F

c.43A>T

1 paper

NM_001105580.3

p.F72F

c.216C>T