Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.R135Q
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RHO

NM_000539.3:p.R135Q

Associated Papers

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

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

Dimeric Rhodopsin R135L Mutant-Transducin-like Complex Sheds Light on Retinitis Pigmentosa Misfunctions.

Guérin DMA et al.

The Journal of Physical Chemistry. B, 2021

Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy.

Mendes HF et al.

Trends in Molecular Medicine, 2005

Mutagenesis and peptide analysis of the DRY motif in the alpha2A adrenergic receptor: evidence for alternate mechanisms in G protein-coupled receptors.

Chung DA et al.

Biochemical and Biophysical Research Communications, 2002

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

Modulation of GDP release from transducin by the conserved Glu134-Arg135 sequence in rhodopsin.

Acharya S et al.

The Journal of Biological Chemistry, 1996

Two mutations of the lutropin/choriogonadotropin receptor that impair signal transduction also interfere with receptor-mediated endocytosis.

Dhanwada KR et al.

Molecular Endocrinology (baltimore, Md.), 1996

Rhodopsin activation: effects on the metarhodopsin I-metarhodopsin II equilibrium of neutralization or introduction of charged amino acids within putative transmembrane segments.

Weitz CJ et al.

Biochemistry, 1993

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

Cohen GB et al.

Biochemistry, 1993

Structure and function in rhodopsin. Studies of the interaction between the rhodopsin cytoplasmic domain and transducin.

Franke RR et al.

The Journal of Biological Chemistry, 1992

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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."