Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.R812*
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NEK1

NM_001199397.3:p.R812*

Associated Papers

Genetic variability in sporadic amyotrophic lateral sclerosis.

Van Daele SH et al.

Brain : a Journal of Neurology, 2023

37043475 (PubMed )
Supplement: awad120_supplementary_data.zip › brain-2022-02191-File008.xlsx › suppl_table_6_P_LP

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

DNA Damage, Defective DNA Repair, and Neurodegeneration in Amyotrophic Lateral Sclerosis.

Konopka A et al.

Frontiers in Aging Neuroscience, 2022

Molecular and Cellular Mechanisms Affected in ALS.

Le Gall L et al.

Journal of Personalized Medicine, 2020

An Amyotrophic Lateral Sclerosis-Associated Mutant of C21ORF2 Is Stabilized by NEK1-Mediated Hyperphosphorylation and the Inability to Bind FBXO3.

Watanabe Y et al.

Iscience, 2020

NEK1 loss-of-function mutation induces DNA damage accumulation in ALS patient-derived motoneurons.

Higelin J et al.

Stem Cell Research, 2018

NEK1 mutations in familial amyotrophic lateral sclerosis.

Brenner D et al.

Brain : a Journal of Neurology, 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."