Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.L634P
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OCRL

NM_000276.4:p.L634P

Associated Papers

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

Chen C et al.

Journal of Developmental Biology, 2022

Two new missense mutations in the protein interaction ASH domain of OCRL1 identified in patients with Lowe syndrome.

Perdomo-Ramirez A et al.

Intractable & Rare Diseases Research, 2020

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

Pirruccello M et al.

Nature Structural & Molecular Biology, 2011

A structural basis for Lowe syndrome caused by mutations in the Rab-binding domain of OCRL1.

Hou X et al.

The Embo Journal, 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

Two closely related endocytic proteins that share a common OCRL-binding motif with APPL1.

Swan LE et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

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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."