Varaico: Literature-Extracted Genetic Variants

Gene:NEK1
Variant:p.R232C
Back to variants list

NEK1

NM_001199397.3:p.R232C

Associated Papers

Molecular underpinnings of dedifferentiation and aggressiveness in chromophobe renal cell carcinoma.

Kapur P et al.

Jci Insight, 2024

38775158 (PubMed )
Supplement: jciinsight-9-176743-s288.xlsx › Table_S5

Somatic Mosaicism in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Reveals Widespread Degeneration from Focal Mutations.

Zhou Z et al.

Biorxiv : the Preprint Server for Biology, 2023

38077003 (PubMed )
Supplement: media-4.xlsx › Reported_ALS_or_FTD_mut.

NEK1 Variants in a Cohort of Italian Patients With Amyotrophic Lateral Sclerosis.

Riva N et al.

Frontiers in Neuroscience, 2022

35495032 (PubMed )
Supplement: Data_Sheet_1.docx

ALS Genes in the Genomic Era and their Implications for FTD.

Nguyen HP et al.

Trends in Genetics : Tig, 2018

NEK1 genetic variability in a Belgian cohort of ALS and ALS-FTD patients.

Nguyen HP et al.

Neurobiology of Aging, 2018

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."