Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.V95A
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TPM2

NM_003289.4:p.V95A

Associated Papers

Investigating the effects of tropomyosin mutations on its flexibility and interactions with filamentous actin using molecular dynamics simulation.

Zheng W et al.

Journal of Muscle Research and Cell Motility, 2016

Several cardiomyopathy causing mutations on tropomyosin either destabilize the active state of actomyosin or alter the binding properties of tropomyosin.

Mathur MC et al.

Biochemical and Biophysical Research Communications, 2011

Defective regulation of contractile function in muscle fibres carrying an E41K beta-tropomyosin mutation.

Ochala J et al.

The Journal of Physiology, 2008

Diminished myofibril organization in mutant axolotl hearts transfected with site-directed mutants of sarcomeric tropomyosins.

Zajdel RW et al.

Cardiovascular Toxicology, 2005

A mouse model of familial hypertrophic cardiomyopathy caused by a alpha-tropomyosin mutation.

Prabhakar R et al.

Molecular and Cellular Biochemistry, 2003

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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."