Varaico: Literature-Extracted Genetic Variants

Gene:NEK8
Variant:p.K33M
Back to variants list

NEK8

NM_178170.3:p.K33M

Associated Papers

Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease.

Claus LR et al.

Kidney International, 2023

Novel fibrillar structure in the inversin compartment of primary cilia revealed by 3D single-molecule superresolution microscopy.

Bennett HW et al.

Molecular Biology of the Cell, 2020

ANKS6 is the critical activator of NEK8 kinase in embryonic situs determination and organ patterning.

Czarnecki PG et al.

Nature Communications, 2015

Defects in ciliary localization of Nek8 is associated with cystogenesis.

Trapp ML et al.

Pediatric Nephrology (berlin, Germany), 2008

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."