Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.W126L
Back to variants list

RHO

NM_000539.3:p.W126L

Associated Papers

Geographic and Phenotypic Variability in RHO-Associated Retinopathy: Evidence From a Chinese Cohort and Global Literature.

Hang C et al.

American Journal of Ophthalmology, 2025

A Survey of Opsin Localization, Glycosylation, and Light/Chromophore Influence on Degeneration in 26 Rhodopsin-Associated RP Models.

Loewen AD et al.

Investigative Ophthalmology & Visual Science, 2025

Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.

Zhen F et al.

Frontiers in Neuroscience, 2023

Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.

Suga A et al.

Human Mutation, 2022

36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.

Wan A et al.

Human Mutation, 2019

30977563 (PubMed )
Supplement: HUMU-40-1127-s002.xlsx › Table_S1

Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme.

Froebel BR et al.

Investigative Ophthalmology & Visual Science, 2017

28715844 (PubMed )
Supplement: iovs-58-05-25_s02.pdf

RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.

Katagiri S et al.

Journal of Ophthalmology, 2014

The spectrum of human rhodopsin disease mutations through the lens of interspecific variation.

Briscoe AD et al.

Gene, 2004

Retinitis pigmentosa rhodopsin mutations L125R and A164V perturb critical interhelical interactions: new insights through compensatory mutations and crystal structure analysis.

Stojanovic A et al.

The Journal of Biological Chemistry, 2003

Light-stable rhodopsin. II. An opsin mutant (TRP-265----Phe) and a retinal analog with a nonisomerizable 11-cis configuration form a photostable chromophore.

Ridge KD et al.

The Journal of Biological Chemistry, 1992

Mapping of the amino acids in membrane-embedded helices that interact with the retinal chromophore in bovine rhodopsin.

Nakayama TA et al.

The Journal of Biological Chemistry, 1991

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."