Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.I206F
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VCP

NM_007126.5:p.I206F

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

Valosin containing protein (VCP): initiator, modifier, and potential drug target for neurodegenerative diseases.

Chu S et al.

Molecular Neurodegeneration, 2023

37545006 (PubMed )
Supplement: 13024_2023_639_MOESM1_ESM.pdf

Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.

Pfeffer G et al.

Genes, 2022

Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy.

Ferrari V et al.

International Journal of Molecular Sciences, 2022

Rare Inherited forms of Paget's Disease and Related Syndromes.

Ralston SH et al.

Calcified Tissue International, 2019

Identifying pathogenicity of human variants via paralog-based yeast complementation.

Yang F et al.

Plos Genetics, 2017

One family, one gene and three phenotypes: A novel VCP (valosin-containing protein) mutation associated with myopathy with rimmed vacuoles, amyotrophic lateral sclerosis and frontotemporal dementia.

Abrahao A et al.

Journal of the Neurological Sciences, 2016

215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.

Evangelista T et al.

Neuromuscular Disorders : Nmd, 2016

Mutations in the Human AAA+ Chaperone p97 and Related Diseases.

Tang WK et al.

Frontiers in Molecular Biosciences, 2016

Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia.

Wang H et al.

Neuromuscular Disorders : Nmd, 2015

Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.

Mehta SG et al.

Clinical Genetics, 2013

Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia.

Peyer AK et al.

Neuromuscular Disorders : Nmd, 2013

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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."