Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A295S
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RHO

NM_000539.3:p.A295S

Associated Papers

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

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

Zeitz C et al.

Investigative Ophthalmology & Visual Science, 2008

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

Briscoe AD et al.

Gene, 2004

Engineering a functional blue-wavelength-shifted rhodopsin mutant.

Janz JM et al.

Biochemistry, 2001

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

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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."