Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.C222R
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RHO

NM_000539.3:p.C222R

Associated Papers

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

Zhen F et al.

Frontiers in Neuroscience, 2023

CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.

Kaukonen M et al.

Genes, 2022

35893064 (PubMed )
Supplement: genes-13-01327-s001.zip › Table_S1_LOVD.xlsx › LOVD_2022-04-19

Structural aspects of rod opsin and their implication in genetic diseases.

Fanelli F et al.

Pflugers Archiv : European Journal of Physiology, 2021

Structure network-based landscape of rhodopsin misfolding by mutations and algorithmic prediction of small chaperone action.

Felline A et al.

Computational and Structural Biotechnology Journal, 2021

34849206 (PubMed )
Supplement: mmc2.xlsx › Table_S1

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

The Retinitis Pigmentosa-Linked Mutations in Transmembrane Helix 5 of Rhodopsin Disrupt Cellular Trafficking Regardless of Oligomerization State.

Mallory DP et al.

Biochemistry, 2018

A Small Chaperone Improves Folding and Routing of Rhodopsin Mutants Linked to Inherited Blindness.

Behnen P et al.

Iscience, 2018

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

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

Functional characterization of a novel c.614-622del rhodopsin mutation in a French pedigree with retinitis pigmentosa.

Maubaret C et al.

Molecular Vision, 2012

Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.

Rakoczy EP et al.

Journal of Molecular Biology, 2011

Structural insights into retinitis pigmentosa from unfolding simulations of rhodopsin mutants.

Fanelli F et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2010

Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.

Krebs MP et al.

Journal of Molecular Biology, 2010

Comparison of the retinitis pigmentosa mutations in rhodopsin with a functional map of the C5a receptor.

Hagemann IS et al.

Vision Research, 2006

[Recent progress in molecular genetics and gene therapy for retinitis pigmentosa].

Wang DY et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005

Gene mutations in retinitis pigmentosa and their clinical implications.

Wang DY et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005

Patterns of retinal light absorption related to retinitis pigmentosa mutants from in silico model structures of rhodopsin.

Padrón-García JA et al.

Proteins, 2004

Retinitis pigmentosa-associated rhodopsin mutations in three membrane-located cysteine residues present three different biochemical phenotypes.

Breikers G et al.

Biochemical and Biophysical Research Communications, 2002

Signal transduction in the retina and inherited retinopathies.

Shastry BS

Cellular and Molecular Life Sciences : Cmls, 1997

Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa.

Kaushal S et al.

Biochemistry, 1994

Molecular analysis and genetic mapping of the rhodopsin gene in families with autosomal dominant retinitis pigmentosa.

Bunge S et al.

Genomics, 1993

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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."