Varaico: Literature-Extracted Genetic Variants

Gene:ANK2
Variant:p.A1000P
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ANK2

NM_001148.6:p.A1000P

Associated Papers

Mechanisms and Alterations of Cardiac Ion Channels Leading to Disease: Role of Ankyrin-B in Cardiac Function.

Sucharski HC et al.

Biomolecules, 2020

The role of βII spectrin in cardiac health and disease.

Derbala MH et al.

Life Sciences, 2018

Dysfunction in the βII spectrin-dependent cytoskeleton underlies human arrhythmia.

Smith SA et al.

Circulation, 2015

A distal axonal cytoskeleton forms an intra-axonal boundary that controls axon initial segment assembly.

Galiano MR et al.

Cell, 2012

Ankyrin-G and beta2-spectrin collaborate in biogenesis of lateral membrane of human bronchial epithelial cells.

Kizhatil K et al.

The Journal of Biological Chemistry, 2007

Ankyrin-B targets beta2-spectrin to an intracellular compartment in neonatal cardiomyocytes.

Mohler PJ et al.

The Journal of Biological Chemistry, 2004

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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."