Varaico: Literature-Extracted Genetic Variants

Gene:ILK
Variant:p.A262V
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ILK

NM_004517.4:p.A262V

Associated Papers

The ILK-PINCH-parvin complex: a conserved primary adhesome regulating biological processes.

Ain U et al.

Histochemistry and Cell Biology, 2025

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

Integrin-linked kinase controls retinal angiogenesis and is linked to Wnt signaling and exudative vitreoretinopathy.

Park H et al.

Nature Communications, 2019

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations

Mutations in ILK, encoding integrin-linked kinase, are associated with arrhythmogenic cardiomyopathy.

Brodehl A et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2019

An increase in integrin-linked kinase non-canonically confers NF-κB-mediated growth advantages to gastric cancer cells by activating ERK1/2.

Tseng PC et al.

Cell Communication and Signaling : Ccs, 2014

Biochemical, proteomic, structural, and thermodynamic characterizations of integrin-linked kinase (ILK): cross-validation of the pseudokinase.

Fukuda K et al.

The Journal of Biological Chemistry, 2011

Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells.

Knöll R et al.

Circulation, 2007

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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."