Varaico: Literature-Extracted Genetic Variants

Gene:CCNF
Variant:p.R392T
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CCNF

NM_001761.3:p.R392T

Associated Papers

Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease.

Ghayal NB et al.

Acta Neuropathologica, 2025

Expanding the spectrum of annexin A11 proteinopathy in frontotemporal lobar degeneration and motor neuron disease.

Ghayal NB et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Cyclin F, Neurodegeneration, and the Pathogenesis of ALS/FTD.

Rayner SL et al.

The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2024

Yeast Models of Amyotrophic Lateral Sclerosis Type 8 Mimic Phenotypes Seen in Mammalian Cells Expressing Mutant VAPBP56S.

Stump AL et al.

Biomolecules, 2023

Genetic and Phenotypic Spectrum of Amyotrophic Lateral Sclerosis Patients with CCNF Variants from a Large Chinese Cohort.

Zhao B et al.

Molecular Neurobiology, 2023

Pathogenic mutations in the ALS gene CCNF cause cytoplasmic mislocalization of Cyclin F and elevated VCP ATPase activity.

Yu Y et al.

Human Molecular Genetics, 2019

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia.

Williams KL et al.

Nature Communications, 2016

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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."