Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.L57R
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RHO

NM_000539.3:p.L57R

Associated Papers

Discovery of non-retinoid compounds that suppress the pathogenic effects of misfolded rhodopsin in a mouse model of retinitis pigmentosa.

Ortega JT et al.

Plos Biology, 2025

Hydrophobic interaction between the TM1 and H8 is essential for rhodopsin trafficking to vertebrate photoreceptor outer segments.

Verma DK et al.

The Journal of Biological Chemistry, 2023

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

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

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 molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.

Athanasiou D et al.

Progress in Retinal and Eye Research, 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

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.

Tiwari A et al.

Plos One, 2016

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

Prevalence of mutations causing retinitis pigmentosa and other inherited retinopathies.

Sohocki MM et al.

Human Mutation, 2001

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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."