Varaico: Literature-Extracted Genetic Variants

Gene:TPM3
Variant:p.R91C
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TPM3

NM_152263.4:p.R91C

Associated Papers

Tropomodulin-1-From the actin slow-growing end to multifunctional roles.

Li Y et al.

Febs Letters, 2026

Troponin and a Myopathy-Linked Mutation in TPM3 Inhibit Cofilin-2-Induced Thin Filament Depolymerization.

Robaszkiewicz K et al.

International Journal of Molecular Sciences, 2023

Tropomyosin 3 (TPM3) function in skeletal muscle and in myopathy.

Lambert MR et al.

Skeletal Muscle, 2023

A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report.

Chen Z et al.

Bmc Neurology, 2023

Structural Effects of Disease-Related Mutations in Actin-Binding Period 3 of Tropomyosin.

Kuruba B et al.

Molecules (basel, Switzerland), 2021

The R168G heterozygous mutation of tropomyosin 3 (TPM3) was identified in three family members and has manifestations ranging from asymptotic to serve scoliosis and respiratory complications.

Xu H et al.

Genes & Diseases, 2021

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

Moraczewska J

Journal of Muscle Research and Cell Motility, 2020

Congenital myopathy-related mutations in tropomyosin disrupt regulatory function through altered actin affinity and tropomodulin binding.

Moraczewska J et al.

The Febs Journal, 2019

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."