Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.F220C
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RHO

NM_000539.3:p.F220C

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

41328990 (PubMed )
Supplement: iovs-66-15-9_s001.docx

Molecular and functional characterization of the retinitis pigmentosa G90V mutation in a conformationally stabilized rhodopsin background.

Fernandez-Gonzalez P et al.

International Journal of Biological Macromolecules, 2025

Small-Molecule Ligands of Rhodopsin and Their Therapeutic Potential in Retina Degeneration.

Pashandi Z et al.

International Journal of Molecular Sciences, 2025

In vivo adenine base editing ameliorates Rho-associated autosomal dominant retinitis pigmentosa.

Hu S et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Mechanisms of Rhodopsin-Related Inherited Retinal Degeneration and Pharmacological Treatment Strategies.

Azam M et al.

Cells, 2025

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Trastulli G et al.

Genes, 2024

39336749 (PubMed )
Supplement: genes-15-01158-s001.zip › genes-3162794-supplementary.xlsx › Table_S1

Investigating the Role of Rhodopsin F45L Mutation in Mouse Rod Photoreceptor Signaling and Survival.

Poria D et al.

Eneuro, 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

35850308 (PubMed )
Supplement: mmc1.pdf

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

Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.

Bahena P et al.

Human Genetics, 2022

34148116 (PubMed )
Supplement: 439_2021_2303_MOESM1_ESM.pdf

Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis.

Biswas P et al.

Plos Genetics, 2021

Unusual mode of dimerization of retinitis pigmentosa-associated F220C rhodopsin.

Khelashvili G et al.

Scientific Reports, 2021

The F220C and F45L rhodopsin mutations identified in retinitis pigmentosa patients do not cause pathology in mice.

Lewis TR et al.

Scientific Reports, 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

Structural bioinformatics analysis of variants on GPCR function.

Syed Haneef SA et al.

Current Opinion in Structural Biology, 2019

Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.

Scott BM et al.

Genetics, 2019

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

Mallory DP et al.

Biochemistry, 2018

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

Dimerization deficiency of enigmatic retinitis pigmentosa-linked rhodopsin mutants.

Ploier B et al.

Nature Communications, 2016

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Tiwari A et al.

Scientific Reports, 2016

27353947 (PubMed )
Supplement: srep28755-s1.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

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

Rakoczy EP et al.

Journal of Molecular Biology, 2011

[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

Signal transduction in the retina and inherited retinopathies.

Shastry BS

Cellular and Molecular Life Sciences : Cmls, 1997

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."