Varaico: Literature-Extracted Genetic Variants

Gene:GUCY2D
Variant:p.R666W
Back to variants list

GUCY2D

NM_000180.4:p.R666W

Associated Papers

Clinical and Biochemical Characterization of Specific GUCY2D Alleles Associated With a Rare Form of Night Blindness.

Ba-Abbad R et al.

Investigative Ophthalmology & Visual Science, 2025

Comprehensive Genotyping and Phenotyping Analysis of GUCY2D-Associated Rod- and Cone-Dominated Dystrophies.

Rodilla C et al.

American Journal of Ophthalmology, 2023

GUCY2D mutations in retinal guanylyl cyclase 1 provide biochemical reasons for dominant cone-rod dystrophy but not for stationary night blindness.

Peshenko IV et al.

The Journal of Biological Chemistry, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."