Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.D499A
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OCRL

NM_000276.4:p.D499A

Associated Papers

Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome.

Du R et al.

Pediatric Nephrology (berlin, Germany), 2024

OCRL regulates lysosome positioning and mTORC1 activity through SSX2IP-mediated microtubule anchoring.

Wang B et al.

Embo Reports, 2021

Loss of OCRL increases ciliary PI(4,5)P2 in Lowe oculocerebrorenal syndrome.

Prosseda PP et al.

Journal of Cell Science, 2017

Ocular Pathology of Oculocerebrorenal Syndrome of Lowe: Novel Mutations and Genotype-Phenotype Analysis.

Song E et al.

Scientific Reports, 2017

Primary cilia signaling mediates intraocular pressure sensation.

Luo N et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

OCRL localizes to the primary cilium: a new role for cilia in Lowe syndrome.

Luo N et al.

Human Molecular Genetics, 2012

The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway.

Noakes CJ et al.

Molecular Biology of the Cell, 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."