Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.D523G
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OCRL

NM_000276.4:p.D523G

Associated Papers

A phosphoinositide switch from PI(4,5)P2 to PI4P triggers endocytosis by inducing dynamin-mediated fission in secretory cells.

Guo X et al.

Science Advances, 2025

Clathrin-associated carriers enable recycling through a kiss-and-run mechanism.

Xu J et al.

Nature Cell Biology, 2024

Bidirectional Allosteric Coupling between PIP2 Binding and the Pore of the Oncochannel TRPV6.

Humer C et al.

International Journal of Molecular Sciences, 2024

38203789 (PubMed )
Supplement: ijms-25-00618-s001.zip › Figure_S4.pdf

Optogenetic stimulation of phosphoinositides reveals a critical role of primary cilia in eye pressure regulation.

Prosseda PP et al.

Science Advances, 2020

Splicing Analysis of Exonic OCRL Mutations Causing Lowe Syndrome or Dent-2 Disease.

Suarez-Artiles L et al.

Genes, 2018

29300302 (PubMed )
Supplement: genes-09-00015-s001.pdf

The 5-phosphatase OCRL in Lowe syndrome and Dent disease 2.

De Matteis MA et al.

Nature Reviews. Nephrology, 2017

A role of OCRL in clathrin-coated pit dynamics and uncoating revealed by studies of Lowe syndrome cells.

Nández R et al.

Elife, 2014

From Lowe syndrome to Dent disease: correlations between mutations of the OCRL1 gene and clinical and biochemical phenotypes.

Hichri H et al.

Human Mutation, 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."