Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.E185K
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VCP

NM_007126.5:p.E185K

Associated Papers

Genetic commonalities between rare subtypes of ALS and CMT: insights into molecular mechanisms of neurodegeneration.

Aynaashe A et al.

Amino Acids, 2026

Neuromuscular disorders with evidence of both neuropathic and myopathic phenotype.

Laurini C et al.

Brain : a Journal of Neurology, 2025

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

Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1.

Robinson SE et al.

Neurology. Genetics, 2024

VCP/p97 UFMylation stabilizes BECN1 and facilitates the initiation of autophagy.

Wang Z et al.

Autophagy, 2024

Valosin-Containing Protein (VCP): A Review of Its Diverse Molecular Functions and Clinical Phenotypes.

Pontifex CS et al.

International Journal of Molecular Sciences, 2024

An autosomal-dominant childhood-onset disorder associated with pathogenic variants in VCP.

Mah-Som AY et al.

American Journal of Human Genetics, 2023

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.

Schiava M et al.

Neurology. Genetics, 2023

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

Chu S et al.

Molecular Neurodegeneration, 2023

The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).

Johnson MA et al.

Neurobiology of Disease, 2022

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

Ferrari V et al.

International Journal of Molecular Sciences, 2022

Neuronal VCP loss of function recapitulates FTLD-TDP pathology.

Wani A et al.

Cell Reports, 2021

Identification of pathogenic missense mutations using protein stability predictors.

Gerasimavicius L et al.

Scientific Reports, 2020

32958805 (PubMed )
Supplement: 41598_2020_72404_MOESM2_ESM.xlsx › ClinVar

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

Clinical spectrum of valosin containing protein (VCP)-opathy.

Kazamel M et al.

Muscle & Nerve, 2016

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

Tang WK et al.

Frontiers in Molecular Biosciences, 2016

Targeted sequencing and identification of genetic variants in sporadic inclusion body myositis.

Weihl CC et al.

Neuromuscular Disorders : Nmd, 2015

A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.

Gonzalez MA et al.

Brain : a Journal of Neurology, 2014

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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."