Varaico: Literature-Extracted Genetic Variants

Gene:CILK1
Variant:p.G120C
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CILK1

NM_014920.5:p.G120C

Associated Papers

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

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

Tsutsumi R et al.

Gene Expression Patterns : Gep, 2018

A Murine Model for Human ECO Syndrome Reveals a Critical Role of Intestinal Cell Kinase in Skeletal Development.

Ding M et al.

Calcified Tissue International, 2018

Ick Ciliary Kinase Is Essential for Planar Cell Polarity Formation in Inner Ear Hair Cells and Hearing Function.

Okamoto S et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2017

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

A novel ICK mutation causes ciliary disruption and lethal endocrine-cerebro-osteodysplasia syndrome.

Oud MM et al.

Cilia, 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."