Varaico: Literature-Extracted Genetic Variants

Gene:NEK8
Variant:p.D128A
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NEK8

NM_178170.3:p.D128A

Associated Papers

NEK8, a NIMA-family protein kinase at the core of the ciliary INV complex.

Roig J

Cell Communication and Signaling : Ccs, 2025

The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis.

Zalli D et al.

Human Molecular Genetics, 2012

22106379 (PubMed )
Supplement: supp_ddr544_ddr544supp.pdf
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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."