Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.E54K
Back to variants list

TPM2

NM_003289.4:p.E54K

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

The nemaline myopathy-causing E117K mutation in β-tropomyosin reduces thin filament activation.

Karpicheva OE et al.

Archives of Biochemistry and Biophysics, 2013

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

Ochala J et al.

The Journal of Physiology, 2008

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."