Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.P56H
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VAPB

NM_004738.5:p.P56H

Associated Papers

Genetic architecture of amyotrophic lateral sclerosis: a comprehensive review.

Yuan L et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025

Disclosing Pathogenic Variant Effects on the Structural Dynamics of the VAPB MSP Domain Causing Familial ALS.

Bashar MA et al.

International Journal of Molecular Sciences, 2025

Pathogenic mechanisms of amyotrophic lateral sclerosis-linked VAPB P56S mutation in the degeneration of corticospinal motor neurons.

Yang X et al.

Ageing and Neurodegenerative Diseases, 2025

Secretion of endoplasmic reticulum protein VAPB/ALS8 requires topological inversion.

Kamemura K et al.

Nature Communications, 2024

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

VAP Proteins - From Organelle Tethers to Pathogenic Host Interactors and Their Role in Neuronal Disease.

Kors S et al.

Frontiers in Cell and Developmental Biology, 2022

Phenotypic heterogeneity in amyotrophic lateral sclerosis type 8 and modifying mechanisms of neurodegeneration.

Oliveira D et al.

Neural Regeneration Research, 2021

A novel mutation of VAPB in one Chinese familial amyotrophic lateral sclerosis pedigree and its clinical characteristics.

Sun YM et al.

Journal of Neurology, 2017

Mutant VAPB: Culprit or Innocent Bystander of Amyotrophic Lateral Sclerosis?

Borgese N et al.

Contact (thousand Oaks (ventura County, Calif.)), 0

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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."