Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.G156C
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VCP

NM_007126.5:p.G156C

Associated Papers

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

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

Soontrapa P et al.

Neuromuscular Disorders : Nmd, 2024

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

Mah-Som AY et al.

American Journal of Human Genetics, 2023

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

Chu S et al.

Molecular Neurodegeneration, 2023

Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.

McCann EP et al.

Journal of Neuromuscular Diseases, 2023

37638449 (PubMed )
Supplement: jnd-10-jnd230148-s001.xlsx › variant_list

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

Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients.

Feng SY et al.

Frontiers in Neurology, 2022

Burden of rare variants in causative genes for amyotrophic lateral sclerosis (ALS) accelerates age at onset of ALS.

Naruse H et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2019

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

[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

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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."