Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.R167C
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TPM1

NM_001018005.2:p.R167C

Associated Papers

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

Thin filament dysfunctions caused by mutations in tropomyosin Tpm3.12 and Tpm1.1.

Moraczewska J

Journal of Muscle Research and Cell Motility, 2020

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

Robaszkiewicz K et al.

Biochimica Et Biophysica Acta, 2015

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Marttila M et al.

Human Mutation, 2014

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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."