Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.G156S
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VCP

NM_007126.5:p.G156S

Associated Papers

Adolescent-onset multisystem proteinopathy due to a novel VCP variant.

Soontrapa P et al.

Neuromuscular Disorders : Nmd, 2024

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

Schiava M et al.

Neurology. Genetics, 2023

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

An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP-43 proteinopathy.

Matsubara T et al.

Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2021

Multisystem Proteinopathy Associated with a VCP G156S Mutation in a French Canadian Family.

Pellerin D et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2020

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

Ralston SH et al.

Calcified Tissue International, 2019

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

VCP gene analyses in Japanese patients with sporadic amyotrophic lateral sclerosis identify a new mutation.

Hirano M et al.

Neurobiology of Aging, 2015

[A patient with familial amyotrophic lateral sclerosis associated with a new valosin-containing protein (VCP) gene mutation].

Segawa M et al.

Rinsho Shinkeigaku = Clinical Neurology, 2015

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

Gonzalez MA et al.

Brain : a Journal of Neurology, 2014

Inclusion body myopathy with Paget disease of the bone and frontotemporal dementia associated with a novel G156S mutation in the VCP gene.

Komatsu J et al.

Muscle & Nerve, 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."