Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A117G
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RHO

NM_000539.3:p.A117G

Associated Papers

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

Wan A et al.

Human Mutation, 2019

30977563 (PubMed )
Supplement: HUMU-40-1127-s002.xlsx › Table_S1

Building a model of the blue cone pigment based on the wild type rhodopsin structure with QM/MM methods.

Frähmcke JS et al.

The Journal of Physical Chemistry. B, 2012

Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.

Rakoczy EP et al.

Journal of Molecular Biology, 2011

Rod and cone opsin families differ in spectral tuning domains but not signal transducing domains as judged by saturated evolutionary trace analysis.

Carleton KL et al.

Journal of Molecular Evolution, 2005

The spectrum of human rhodopsin disease mutations through the lens of interspecific variation.

Briscoe AD et al.

Gene, 2004

Mechanisms of spectral tuning in blue cone visual pigments. Visible and raman spectroscopy of blue-shifted rhodopsin mutants.

Lin SW et al.

The Journal of Biological Chemistry, 1998

The effects of amino acid replacements of glycine 121 on transmembrane helix 3 of rhodopsin.

Han M et al.

The Journal of Biological Chemistry, 1996

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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."