Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.L687P
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OCRL

NM_000276.4:p.L687P

Associated Papers

The Role of Primary Cilia-Associated Phosphoinositide Signaling in Development.

Chen C et al.

Journal of Developmental Biology, 2022

The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule.

Oltrabella F et al.

Plos Genetics, 2015

Recognition of the F&H motif by the Lowe syndrome protein OCRL.

Pirruccello M et al.

Nature Structural & Molecular Biology, 2011

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

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

Membrane targeting and activation of the Lowe syndrome protein OCRL1 by rab GTPases.

Hyvola N et al.

The Embo Journal, 2006

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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."