Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.Y102H
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RHO

NM_000539.3:p.Y102H

Associated Papers

Preventing light-induced toxicity in a new mouse model of sector retinitis pigmentosa caused by Rhodopsin M39R variant.

Guarascio R et al.

Cell Death Discovery, 2025

Insights into rhodopsin molecular evolution from mice with "humanized" Phe-88 to Leu substitution.

Wang F et al.

Research Square, 2025

New insights into the molecular mechanism of rhodopsin retinitis pigmentosa from the biochemical and functional characterization of G90V, Y102H and I307N mutations.

Herrera-Hernández MG et al.

Cellular and Molecular Life Sciences : Cmls, 2022

Effect of Sodium Valproate on the Conformational Stability of the Visual G Protein-Coupled Receptor Rhodopsin.

Razzaghi N et al.

Molecules (basel, Switzerland), 2021

Mouse models of human ocular disease for translational research.

Krebs MP et al.

Plos One, 2017

Assessment of visual function and retinal structure following acute light exposure in the light sensitive T4R rhodopsin mutant dog.

Iwabe S et al.

Experimental Eye Research, 2016

Gene augmentation for adRP mutations in RHO.

Lewin AS et al.

Cold Spring Harbor Perspectives in Medicine, 2014

Mutations of the opsin gene (Y102H and I307N) lead to light-induced degeneration of photoreceptors and constitutive activation of phototransduction in mice.

Budzynski E et al.

The Journal of Biological Chemistry, 2010

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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."