Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.K510Q
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FUS

NM_004960.4:p.K510Q

Associated Papers

Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALS.

Schweingruber C et al.

Nature Communications, 2025

40389397 (PubMed )
Supplement: 41467_2025_59679_MOESM3_ESM.xlsx › FUS_Clinical_Data

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

FUS Mutation Causes Disordered Lipid Metabolism in Skeletal Muscle Associated with ALS.

Zhou B et al.

Molecular Neurobiology, 2022

FUS mutations in Asian amyotrophic lateral sclerosis patients: a case report and literature review of genotype-phenotype correlations.

Lu T et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

35232295 (PubMed )
Supplement: supplement_1.docx

Widespread Mislocalization of FUS Is Associated With Mitochondrial Abnormalities in Skeletal Muscle in Amyotrophic Lateral Sclerosis With FUS Mutations.

Yu M et al.

Journal of Neuropathology and Experimental Neurology, 2022

Lysine acetylation regulates the RNA binding, subcellular localization and inclusion formation of FUS.

Arenas A et al.

Human Molecular Genetics, 2020

Novel and Recurrent Mutations in a Cohort of Chinese Patients With Young-Onset Amyotrophic Lateral Sclerosis.

Deng J et al.

Frontiers in Neuroscience, 2019

Genetic heterogeneity of motor neuropathies.

Bansagi B et al.

Neurology, 2017

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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."