Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.E113D
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RHO

NM_000539.3:p.E113D

Associated Papers

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

Scott BM et al.

Journal of Molecular Evolution, 2024

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.

Reiff C et al.

Scientific Reports, 2016

Point mutations in bovine opsin can be classified in four groups with respect to their effect on the biosynthetic pathway of opsin.

DeCaluwé GL et al.

The Biochemical Journal, 1996

Characterization of the mutant visual pigment responsible for congenital night blindness: a biochemical and Fourier-transform infrared spectroscopy study.

Zvyaga TA et al.

Biochemistry, 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."