Varaico: Literature-Extracted Genetic Variants

Gene:CILK1
Variant:p.V320I
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CILK1

NM_014920.5:p.V320I

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_S6

A homozygous frameshift variant in the CILK1 gene causes cranioectodermal dysplasia.

Sezer A et al.

European Journal of Human Genetics : Ejhg, 2025

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

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

Bailey JN et al.

The New England Journal of Medicine, 2018

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06P-01A.domain
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