Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.C323S
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RHO

NM_000539.3:p.C323S

Associated Papers

Conformational selection and equilibrium governs the ability of retinals to bind opsin.

Schafer CT et al.

The Journal of Biological Chemistry, 2015

Modulation of molecular interactions and function by rhodopsin palmitylation.

Park PS et al.

Biochemistry, 2009

Utility of molecular testing for related retinal dystrophies.

Mezer E et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2006

Enhanced shutoff of phototransduction in transgenic mice expressing palmitoylation-deficient rhodopsin.

Wang Z et al.

The Journal of Biological Chemistry, 2005

The amino terminus of the fourth cytoplasmic loop of rhodopsin modulates rhodopsin-transducin interaction.

Marin EP et al.

The Journal of Biological Chemistry, 2000

Mutation of the fourth cytoplasmic loop of rhodopsin affects binding of transducin and peptides derived from the carboxyl-terminal sequences of transducin alpha and gamma subunits.

Ernst OP et al.

The Journal of Biological Chemistry, 2000

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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."