Varaico: Literature-Extracted Genetic Variants

Gene:CILK1
Variant:p.S53T
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CILK1

NM_014920.5:p.S53T

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

Ccrk-Mak/Ick signaling is a ciliary transport regulator essential for retinal photoreceptor survival.

Chaya T et al.

Life Science Alliance, 2024

CCRK/CDK20 regulates ciliary retrograde protein trafficking via interacting with BROMI/TBC1D32.

Noguchi T et al.

Plos One, 2021

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

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

CCRK depletion inhibits glioblastoma cell proliferation in a cilium-dependent manner.

Yang Y et al.

Embo Reports, 2013

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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."