Varaico: Literature-Extracted Genetic Variants

Gene:ILK
Variant:p.H99D
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ILK

NM_004517.4:p.H99D

Associated Papers

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

Ain U et al.

Histochemistry and Cell Biology, 2025

Sequence and Structure-Based Analyses of Human Ankyrin Repeats.

Chakrabarty B et al.

Molecules (basel, Switzerland), 2022

35056738 (PubMed )
Supplement: molecules-27-00423-s001.zip › SupplementaryFileS4.xlsx › Sheet1

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

The integrin-linked kinase-PINCH-parvin complex supports integrin αIIbβ3 activation.

Honda S et al.

Plos One, 2013

Structural basis of competition between PINCH1 and PINCH2 for binding to the ankyrin repeat domain of integrin-linked kinase.

Chiswell BP et al.

Journal of Structural Biology, 2010

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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."