Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.R91G
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TPM3

NM_152263.4:p.R91G

Associated Papers

The Twisting and Untwisting of Actin and Tropomyosin Filaments Are Involved in the Molecular Mechanisms of Muscle Contraction, and Their Disruption Can Result in Muscle Disorders.

Borovikov YS et al.

International Journal of Molecular Sciences, 2025

Molecular Mechanisms of the Deregulation of Muscle Contraction Induced by the R90P Mutation in Tpm3.12 and the Weakening of This Effect by BDM and W7.

Borovikov YS et al.

International Journal of Molecular Sciences, 2021

TPM3 deletions cause a hypercontractile congenital muscle stiffness phenotype.

Donkervoort S et al.

Annals of Neurology, 2015

Impaired tropomyosin-troponin interactions reduce activation of the actin thin filament.

Robaszkiewicz K et al.

Biochimica Et Biophysica Acta, 2015

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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."