Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.T94S
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RHO

NM_000539.3:p.T94S

Associated Papers

Probing biophysical sequence constraints within the transmembrane domains of rhodopsin by deep mutational scanning.

Penn WD et al.

Science Advances, 2020

32181350 (PubMed )
Supplement: aay7505_SM.pdf

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

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

Unusual thermal and conformational properties of the rhodopsin congenital night blindness mutant Thr-94 --> Ile.

Ramon E et al.

The Journal of Biological Chemistry, 2003

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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."