Varaico: Literature-Extracted Genetic Variants

Gene:NEK8
Variant:p.K33R
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NEK8

NM_178170.3:p.K33R

Associated Papers

CDKL Family Kinases Have Evolved Distinct Structural Features and Ciliary Function.

Canning P et al.

Cell Reports, 2018

29420175 (PubMed )
Supplement: mmc2.pdf

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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