Varaico: Literature-Extracted Genetic Variants

Gene:FUS
Variant:p.R514Splc
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FUS

NM_004960.4:p.R514Splc

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

Investigation of a Fused in Sarcoma Splicing Mutation in a Chinese Amyotrophic Lateral Sclerosis Patient.

Yang W et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2023

Role of genetics in amyotrophic lateral sclerosis: a large cohort study in Chinese mainland population.

Chen YP et al.

Journal of Medical Genetics, 2022

34544842 (PubMed )
Supplement: jmedgenet-2021-107965supp003.pdf

Frameshift peptides alter the properties of truncated FUS proteins in ALS-FUS.

An H et al.

Molecular Brain, 2020

Stress Granules and ALS: A Case of Causation or Correlation?

Fernandes N et al.

Advances in Neurobiology, 2018

An amyotrophic lateral sclerosis-linked mutation in GLE1 alters the cellular pool of human Gle1 functional isoforms.

Aditi et al.

Advances in Biological Regulation, 2016

Deleterious mutations in the essential mRNA metabolism factor, hGle1, in amyotrophic lateral sclerosis.

Kaneb HM et al.

Human Molecular Genetics, 2015

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 a FUS splicing mutation in a large family with amyotrophic lateral sclerosis.

Belzil VV et al.

Journal of Human Genetics, 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."