Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.K296R
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RHO

NM_000539.3:p.K296R

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

Lysine Ubiquitylation Drives Rhodopsin Protein Turnover.

Chen APF et al.

Advances in Experimental Medicine and Biology, 2023

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

Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa.

Tam BM et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014

Recent insights into the mechanisms underlying light-dependent retinal degeneration from X. laevis models of retinitis pigmentosa.

Moritz OL et al.

Advances in Experimental Medicine and Biology, 2010

The role of rhodopsin glycosylation in protein folding, trafficking, and light-sensitive retinal degeneration.

Tam BM et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009

Dark rearing rescues P23H rhodopsin-induced retinal degeneration in a transgenic Xenopus laevis model of retinitis pigmentosa: a chromophore-dependent mechanism characterized by production of N-terminally truncated mutant rhodopsin.

Tam BM et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2007

Characterization of rhodopsin P23H-induced retinal degeneration in a Xenopus laevis model of retinitis pigmentosa.

Tam BM et al.

Investigative Ophthalmology & Visual Science, 2006

Mislocalized rhodopsin does not require activation to cause retinal degeneration and neurite outgrowth in Xenopus laevis.

Tam BM et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006

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

Kaushal S et al.

Biochemistry, 1994

Constitutive activation of opsin: influence of charge at position 134 and size at position 296.

Cohen GB et al.

Biochemistry, 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."