Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.G51D
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RHO

NM_000539.3:p.G51D

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

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

Allele-specific gene-editing approach for vision loss restoration in RHO-associated retinitis pigmentosa.

Liu X et al.

Elife, 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

Retinal degeneration in humanized mice expressing mutant rhodopsin under the control of the endogenous murine promoter.

Liu X et al.

Experimental Eye Research, 2022

Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies.

Habibi I et al.

Frontiers in Cell and Developmental Biology, 2021

Structural determinants of a conserved enantiomer-selective carvone binding pocket in the human odorant receptor OR1A1.

Geithe C et al.

Cellular and Molecular Life Sciences : Cmls, 2017

Constitutively active mutant gives novel insights into the mechanism of bitter taste receptor activation.

Pydi SP et al.

Journal of Neurochemistry, 2012

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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."