Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.R159G
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VCP

NM_007126.5:p.R159G

Associated Papers

ASPL couples the assembly of stress granules with their VCP-mediated disassembly.

Pareek G et al.

Science Advances, 2025

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

Chu S et al.

Molecular Neurodegeneration, 2023

Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.

Stump AL et al.

Biomolecules, 2023

Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene.

Miura S et al.

Frontiers in Genetics, 2023

Proteostasis impairment and ALS.

Lambert-Smith IA et al.

Progress in Biophysics and Molecular Biology, 2022

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

Destination Amyotrophic Lateral Sclerosis.

Keon M et al.

Frontiers in Neurology, 2021

33854469 (PubMed )
Supplement: Table_1.XLSX › Genes

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

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

Time Course of Radiological Imaging and Variable Interindividual Symptoms in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Associated with p.Arg487His Mutation in the VCP Gene.

Hirano M et al.

European Neurology, 2017

Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.

Gang Q et al.

Neurobiology of Aging, 2016

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

VCP mutations are not a major cause of familial amyotrophic lateral sclerosis in the UK.

Kwok CT et al.

Journal of the Neurological Sciences, 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

Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant.

Ayaki T et al.

Acta Neuropathologica Communications, 2014

Motor neuron involvement in multisystem proteinopathy: implications for ALS.

Benatar M et al.

Neurology, 2013

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

A newly uncovered group of distantly related lysine methyltransferases preferentially interact with molecular chaperones to regulate their activity.

Cloutier P et al.

Plos Genetics, 2013

Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.

González-Pérez P et al.

Neurology, 2012

Rescue of growth defects of yeast cdc48 mutants by pathogenic IBMPFD-VCPs.

Takata T et al.

Journal of Structural Biology, 2012

VCP mutations in familial and sporadic amyotrophic lateral sclerosis.

Koppers M et al.

Neurobiology of Aging, 2012

Mutational analysis of VCP gene in familial amyotrophic lateral sclerosis.

Tiloca C et al.

Neurobiology of Aging, 2012

The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.

Nalbandian A et al.

Journal of Molecular Neuroscience : Mn, 2011

Exome sequencing reveals VCP mutations as a cause of familial ALS.

Johnson JO et al.

Neuron, 2010

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