Varaico: Literature-Extracted Genetic Variants

Gene:RGR
Variant:p.G279insFs
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RGR

NM_002921.4:p.G279insFs

Associated Papers

The dark and bright sides of retinal G protein-coupled receptor (RGR) in vision and disease.

Ruddin G et al.

Progress in Retinal and Eye Research, 2025

Clinical Features of a Retinopathy Associated With a Dominant Allele of the RGR Gene.

Ba-Abbad R et al.

Investigative Ophthalmology & Visual Science, 2018

Coexpression of nonvisual opsin, retinal G protein-coupled receptor, and visual pigments in human and bovine cone photoreceptors.

Zhang Z et al.

Molecular Vision, 2018

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

Wang X et al.

Bmc Ophthalmology, 2017

RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations.

Li J et al.

Molecular Medicine Reports, 2016

Targeting of exon VI-skipping human RGR-opsin to the plasma membrane of pigment epithelium and co-localization with terminal complement complex C5b-9.

Kochounian H et al.

Molecular Vision, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."