Varaico: Literature-Extracted Genetic Variants

Gene:TPM1
Variant:p.E181K
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TPM1

NM_001018005.2:p.E181K

Associated Papers

TPM1-p.E181K mutation suppresses CaMKII/HDAC4 signaling pathway leading to pediatric restrictive cardiomyopathy.

Fu J et al.

Frontiers in Genetics, 2025

[A case of restrictive cardiomyopathy associated with new TPM1 gene mutation].

Fu J et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022

Molecular Mechanisms of Pathologies of Skeletal and Cardiac Muscles Caused by Point Mutations in the Tropomyosin Genes.

Matyushenko AM et al.

Biochemistry. Biokhimiia, 2020

Mechanistic heterogeneity in contractile properties of α-tropomyosin (TPM1) mutants associated with inherited cardiomyopathies.

Gupte TM et al.

The Journal of Biological Chemistry, 2015

Mutations in repeating structural motifs of tropomyosin cause gain of function in skeletal muscle myopathy patients.

Marston S et al.

Human Molecular Genetics, 2013

Skeletal muscle myopathy mutations at the actin tropomyosin interface that cause gain- or loss-of-function.

Memo M et al.

Journal of Muscle Research and Cell Motility, 2013

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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."