Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG5
Variant:p.P630H
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PLEKHG5

NM_020631.6:p.P630H

Associated Papers

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

The RhoGEF protein Plekhg5 self-associates via its PH domain to regulate apical cell constriction.

Popov IK et al.

Molecular Biology of the Cell, 2024

Novel PLEKHG5 mutations in a patient with childhood-onset lower motor neuron disease.

Gonzalez-Quereda L et al.

Annals of Clinical and Translational Neurology, 2021

The distinct genetic pattern of ALS in Turkey and novel mutations.

Özoğuz A et al.

Neurobiology of Aging, 2015

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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."