Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.M207K
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RHO

NM_000539.3:p.M207K

Associated Papers

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

RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.

Daich Varela M et al.

Investigative Ophthalmology & Visual Science, 2025

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

Zhen F et al.

Frontiers in Neuroscience, 2023

Molecular basis for variations in the sensitivity of pathogenic rhodopsin variants to 9-cis-retinal.

Roushar FJ et al.

The Journal of Biological Chemistry, 2022

35850308 (PubMed )
Supplement: mmc1.pdf

Enigmatic rhodopsin mutation creates an exceptionally strong splice acceptor site.

Riedmayr LM et al.

Human Molecular Genetics, 2020

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

Protein stabilization improves STAT3 function in autosomal dominant hyper-IgE syndrome.

Bocchini CE et al.

Blood, 2016

Differential light-induced responses in sectorial inherited retinal degeneration.

Ramon E et al.

The Journal of Biological Chemistry, 2014

Structural determinants of allosteric antagonism at metabotropic glutamate receptor 2: mechanistic studies with new potent negative allosteric modulators.

Lundström L et al.

British Journal of Pharmacology, 2011

An unusual retinal phenotype associated with a novel mutation in RHO.

Audo I et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2010

Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients.

Audo I et al.

Investigative Ophthalmology & Visual Science, 2010

Structural determinants for G-protein activation and specificity in the third intracellular loop of the thyroid-stimulating hormone receptor.

Claus M et al.

Journal of Molecular Medicine (berlin, Germany), 2006

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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."