Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.K296M
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RHO

NM_000539.3:p.K296M

Associated Papers

Aggregation of the Constitutively Active K296E Rhodopsin Mutant Contributes to Retinal Degeneration.

Vasudevan S et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2025

Aggregation of the constitutively active K296E rhodopsin mutant contributes to retinal degeneration.

Vasudevan S et al.

Biorxiv : the Preprint Server for Biology, 2025

Scaling up Functional Analyses of the G Protein-Coupled Receptor Rhodopsin.

Scott BM et al.

Journal of Molecular Evolution, 2024

Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.

Zhen F et al.

Frontiers in Neuroscience, 2023

Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene.

Kobal N et al.

International Journal of Molecular Sciences, 2021

Retinal degeneration in mice expressing the constitutively active G90D rhodopsin mutant.

Colozo AT et al.

Human Molecular Genetics, 2020

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.

Wan A et al.

Human Mutation, 2019

Biology and therapy of inherited retinal degenerative disease: insights from mouse models.

Veleri S et al.

Disease Models & Mechanisms, 2015

Constitutively active rhodopsin and retinal disease.

Park PS

Advances in Pharmacology (san Diego, Calif.), 2014

1 rhodopsin mutations in congenital night blindness.

McAlear SD et al.

Advances in Experimental Medicine and Biology, 2010

Constitutive activation of G protein-coupled receptors and diseases: insights into mechanisms of activation and therapeutics.

Tao YX

Pharmacology & Therapeutics, 2008

Identification and functional characterization of a novel rhodopsin mutation associated with autosomal dominant CSNB.

Zeitz C et al.

Investigative Ophthalmology & Visual Science, 2008

[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

Characterization of rhodopsin congenital night blindness mutant T94I.

Gross AK et al.

Biochemistry, 2003

Constitutive activation of opsin by mutation of methionine 257 on transmembrane helix 6.

Han M et al.

Biochemistry, 1998

Rhodopsin arginine-135 mutants are phosphorylated by rhodopsin kinase and bind arrestin in the absence of 11-cis-retinal.

Shi W et al.

Biochemistry, 1998

Synthesis and characterization of a novel retinylamine analog inhibitor of constitutively active rhodopsin mutants found in patients with autosomal dominant retinitis pigmentosa.

Yang T et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

Signal transduction in the retina and inherited retinopathies.

Shastry BS

Cellular and Molecular Life Sciences : Cmls, 1997

Constitutive activation of opsin: interaction of mutants with rhodopsin kinase and arrestin.

Rim J et al.

Biochemistry, 1995

Influence of heredity on human sensitivity to environmental chemicals.

Weber WW

Environmental and Molecular Mutagenesis, 1995

In the eye of the beholder: visual pigments and inherited variation in human vision.

Nathans J

Cell, 1994

Active site-directed inactivation of constitutively active mutants of rhodopsin.

Govardhan CP et al.

The Journal of Biological Chemistry, 1994

[Frequency of the 35delG mutation of the connexin 26 gene (GJB2) in patients with non-syndromic autosome-recessive deafness from Bashkortostan and in ethnic groups of the Volga-Ural region].

Khidiiatova IM et al.

Molekuliarnaia Biologiia, 0

[The novel R252P mutation of the RHO gene in patients with retinitis pigmentosa from Bashkortostan].

Grinberg ER et al.

Molekuliarnaia Biologiia, 0

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