Varaico: Literature-Extracted Genetic Variants

Gene:OCRL
Variant:p.G664D
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OCRL

NM_000276.4:p.G664D

Associated Papers

Insights into the Effect of Lowe Syndrome-Causing Mutation p.Asn591Lys of OCRL-1 through Protein-Protein Interaction Networks and Molecular Dynamics Simulations.

Acosta-Tapia N et al.

Journal of Chemical Information and Modeling, 2020

Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.

Shalaby AK et al.

Molecular Vision, 2018

The Lowe syndrome protein OCRL1 is involved in primary cilia assembly.

Coon BG et al.

Human Molecular Genetics, 2012

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

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

Differential clathrin binding and subcellular localization of OCRL1 splice isoforms.

Choudhury R et al.

The Journal of Biological Chemistry, 2009

A role of the Lowe syndrome protein OCRL in early steps of the endocytic pathway.

Erdmann KS et al.

Developmental Cell, 2007

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."