Varaico: Literature-Extracted Genetic Variants

Gene:CILK1
Variant:p.K33R
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CILK1

NM_014920.5:p.K33R

Associated Papers

Anterograde trafficking of ciliary MAP kinase-like ICK/CILK1 by the intraflagellar transport machinery is required for intraciliary retrograde protein trafficking.

Nakamura K et al.

The Journal of Biological Chemistry, 2020

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

Wang EJ et al.

Cells, 2020

Ciliopathy-Associated Protein Kinase ICK Requires Its Non-Catalytic Carboxyl-Terminal Domain for Regulation of Ciliogenesis.

Oh YS et al.

Cells, 2019

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

Canning P et al.

Cell Reports, 2018

29420175 (PubMed )
Supplement: mmc2.pdf

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

Intestinal cell kinase, a protein associated with endocrine-cerebro-osteodysplasia syndrome, is a key regulator of cilia length and Hedgehog signaling.

Moon H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2014

ICK is essential for cell type-specific ciliogenesis and the regulation of ciliary transport.

Chaya T et al.

The Embo Journal, 2014

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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."