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

2 papers

NM_001105580.3

p.E92D

c.276A>T

Surrounding Variants

2 papers

NM_001105580.3

p.E92D

c.276A>C

1 paper

NM_001105580.3

p.E92A

c.275A>C

1 paper

NM_001105580.3

p.E117V

c.350A>T

1 paper

NM_001105580.3

p.T130P

c.388A>C

1 paper

NM_001105580.3

p.R165C

c.493C>T

1 paper

NM_001105580.3

p.R165H

c.494G>A

1 paper

NM_001105580.3

p.L174P

c.521T>C

1 paper

NM_001105580.3

p.F72F

c.216C>T

1 paper

NM_001105580.3

p.R177G

c.529A>G

1 paper

NM_001105580.3

p.R190K

c.569G>A

1 paper

NM_001105580.3

p.Y205Splc

c.613+2T>G

6 papers

NM_001105580.3

p.Y205*

c.615T>G