Varaico: Literature-Extracted Genetic Variants

Gene:VCP
Variant:p.L198W
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VCP

NM_007126.5:p.L198W

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_Grb2

Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.

Mok JW et al.

Genome Research, 2025

40467338 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › Supplemental_Table1

Utilization of CoRDS registry to monitor quality of life in patients with VCP multisystem proteinopathy.

Abdoalsadig E et al.

Orphanet Journal of Rare Diseases, 2025

Targeting mitophagy in neurodegenerative diseases.

Antico O et al.

Nature Reviews. Drug Discovery, 2025

2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy.

Peck A et al.

Neurobiology of Disease, 2025

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_Grb2

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

Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1.

Columbres RCA et al.

Genes, 2023

Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy.

Shmara A et al.

Neurology. Genetics, 2023

VCP-related myopathy: a case series and a review of literature.

Iannibelli E et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2023

Selenoprotein S: A versatile disordered protein.

Ghelichkhani F et al.

Archives of Biochemistry and Biophysics, 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

The Role of VCP Mutations in the Spectrum of Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.

Scarian E et al.

Frontiers in Neurology, 2022

CRISPR/Cas9-engineered Drosophila knock-in models to study VCP diseases.

Wall JM et al.

Disease Models & Mechanisms, 2021

Multisystem proteinopathy: Where myopathy and motor neuron disease converge.

Korb MK et al.

Muscle & Nerve, 2021

NMR spectroscopy captures the essential role of dynamics in regulating biomolecular function.

Alderson TR et al.

Cell, 2021

Phenotypic diversity in an international Cure VCP Disease registry.

Ikenaga C et al.

Orphanet Journal of Rare Diseases, 2020

32993728 (PubMed )
Supplement: 13023_2020_1551_MOESM2_ESM.pdf

Observation of a Transient Reaction Intermediate Illuminates the Mechanochemical Cycle of the AAA-ATPase p97.

Rydzek S et al.

Journal of the American Chemical Society, 2020

VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle.

Arhzaouy K et al.

Autophagy, 2019

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

Ralston SH et al.

Calcified Tissue International, 2019

Genotype-phenotype study in patients with valosin-containing protein mutations associated with multisystem proteinopathy.

Al-Obeidi E et al.

Clinical Genetics, 2018

Interaction between the AAA+ ATPase p97 and its cofactor ataxin3 in health and disease: Nucleotide-induced conformational changes regulate cofactor binding.

Rao MV et al.

The Journal of Biological Chemistry, 2017

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

Yang F et al.

Plos Genetics, 2017

A conserved inter-domain communication mechanism regulates the ATPase activity of the AAA-protein Drg1.

Prattes M et al.

Scientific Reports, 2017

VCP/p97 cooperates with YOD1, UBXD1 and PLAA to drive clearance of ruptured lysosomes by autophagy.

Papadopoulos C et al.

The Embo Journal, 2017

Structural basis for nucleotide-modulated p97 association with the ER membrane.

Tang WK et al.

Cell Discovery, 2017

A Dynamic molecular basis for malfunction in disease mutants of p97/VCP.

Schuetz AK et al.

Elife, 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

Role of the D1-D2 Linker of Human VCP/p97 in the Asymmetry and ATPase Activity of the D1-domain.

Tang WK et al.

Scientific Reports, 2016

IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation.

Bayraktar O et al.

Plos One, 2016

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

Tang WK et al.

Frontiers in Molecular Biosciences, 2016

Psychological Impact of Predictive Genetic Testing in VCP Inclusion Body Myopathy, Paget Disease of Bone and Frontotemporal Dementia.

Surampalli A et al.

Journal of Genetic Counseling, 2015

Altered cofactor regulation with disease-associated p97/VCP mutations.

Zhang X et al.

Proceedings of the National Academy of Sciences of the United States of America, 2015

A network of RNA and protein interactions in Fronto Temporal Dementia.

Fontana F et al.

Frontiers in Molecular Neuroscience, 2015

Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation.

Jerath NU et al.

Case Reports in Genetics, 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

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

Gonzalez MA et al.

Brain : a Journal of Neurology, 2014

Altered intersubunit communication is the molecular basis for functional defects of pathogenic p97 mutants.

Tang WK et al.

The Journal of Biological Chemistry, 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 unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization.

Erzurumlu Y et al.

The International Journal of Biochemistry & Cell Biology, 2013

[A case of inclusion body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD) showing clinical features of motor neuron disease].

Igari R et al.

Rinsho Shinkeigaku = Clinical Neurology, 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."