Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.Q519*
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FUS

NM_004960.4:p.Q519*

Associated Papers

Target-stabilized base editors enable robust high-fidelity RNA editing.

Liu T et al.

Nature Communications, 2026

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

Modelling Population Genetic Screening in Rare Neurodegenerative Diseases.

Spargo TP et al.

Biomedicines, 2025

40426848 (PubMed )
Supplement: biomedicines-13-01018-s001.zip › biomedicines-3524804-supplementary.pdf

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

Animal Models of FUS-Proteinopathy: A Systematic Review.

Rezvykh A et al.

Biochemistry. Biokhimiia, 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

A de novo c.1509dupA:p.R503fs mutation of FUS: report of a girl with sporadic juvenile amyotrophic lateral sclerosis.

Chen L et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2020

Fused in Sarcoma: Properties, Self-Assembly and Correlation with Neurodegenerative Diseases.

Chen C et al.

Molecules (basel, Switzerland), 2019

The investigation of genetic and clinical features in Chinese patients with juvenile amyotrophic lateral sclerosis.

Liu ZJ et al.

Clinical Genetics, 2017

A novel mutation of the C-terminal amino acid of FUS (Y526C) strengthens FUS gene as the most frequent genetic factor in aggressive juvenile ALS.

Corcia P et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2017

Mutations in FUS are the most frequent genetic cause in juvenile sporadic ALS patients of Chinese origin.

Zou ZY et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2016

De novo nonsense mutation of the FUS gene in an apparently familial amyotrophic lateral sclerosis case.

Calvo A et al.

Neurobiology of Aging, 2014

The role of FUS gene variants in neurodegenerative diseases.

Deng H et al.

Nature Reviews. Neurology, 2014

Stress granules in neurodegeneration--lessons learnt from TAR DNA binding protein of 43 kDa and fused in sarcoma.

Bentmann E et al.

The Febs Journal, 2013

TARDBP and FUS mutations associated with amyotrophic lateral sclerosis: summary and update.

Lattante S et al.

Human Mutation, 2013

De novo FUS gene mutations are associated with juvenile-onset sporadic amyotrophic lateral sclerosis in China.

Zou ZY et al.

Neurobiology of Aging, 2013

FUS gene mutations cause essential tremor: a surprise but also confirms genetic heterogeneity of essential tremor.

Macerollo A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2013

Exome sequencing identifies FUS mutations as a cause of essential tremor.

Merner ND et al.

American Journal of Human Genetics, 2012

FUS-related proteinopathies: lessons from animal models.

Lanson NA et al.

Brain Research, 2012

Identification of novel FUS mutations in sporadic cases of amyotrophic lateral sclerosis.

Belzil VV et al.

Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases, 2011

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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."