Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.R104W
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PDE6C

NM_006204.4:p.R104W

Associated Papers

Structural and functional dynamics of human cone cGMP-phosphodiesterase important for photopic vision.

Singh S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

39739818 (PubMed )
Supplement: pnas.2419732121.sapp.pdf

Structural Analysis of the Regulatory GAF Domains of cGMP Phosphodiesterase Elucidates the Allosteric Communication Pathway.

Gupta R et al.

Journal of Molecular Biology, 2020

PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults.

Daich Varela M et al.

Investigative Ophthalmology & Visual Science, 2020

Mechanisms of mutant PDE6 proteins underlying retinal diseases.

Gopalakrishna KN et al.

Cellular Signalling, 2017

Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia.

Cheguru P et al.

Molecular and Cellular Neurosciences, 2015

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.

Grau T et al.

Human Molecular Genetics, 2011

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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."