Varaico: Literature-Extracted Genetic Variants

Gene:CILK1
Variant:p.E80K
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CILK1

NM_014920.5:p.E80K

Associated Papers

Cilia kinases in skeletal development and homeostasis.

Abraham SP et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022

Post-translational modification enzymes as key regulators of ciliary protein trafficking.

Chaya T et al.

Journal of Biochemistry, 2021

Mice Harboring a Non-Functional CILK1/ICK Allele Fail to Model the Epileptic Phenotype in Patients Carrying Variant CILK1/ICK.

Salvati KA et al.

International Journal of Molecular Sciences, 2021

Functional Alterations in Ciliogenesis-Associated Kinase 1 (CILK1) that Result from Mutations Linked to Juvenile Myoclonic Epilepsy.

Wang EJ et al.

Cells, 2020

Ciliogenesis associated kinase 1: targets and functions in various organ systems.

Fu Z et al.

Febs Letters, 2019

Fibroblast growth factor receptor influences primary cilium length through an interaction with intestinal cell kinase.

Kunova Bosakova M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Enriched expression of the ciliopathy gene Ick in cell proliferating regions of adult mice.

Tsutsumi R et al.

Gene Expression Patterns : Gep, 2018

An inactivating mutation in intestinal cell kinase, ICK, impairs hedgehog signalling and causes short rib-polydactyly syndrome.

Paige Taylor S et al.

Human Molecular Genetics, 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."