Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.K168E
Back to variants list

TPM2

NM_003289.4:p.K168E

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

Molecular mechanisms of dysfunction of muscle fibres associated with Glu139 deletion in TPM2 gene.

Borovikov YS et al.

Scientific Reports, 2017

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

Marston S et al.

Human Molecular Genetics, 2013

Spectrum of mutations that cause distal arthrogryposis types 1 and 2B.

Beck AE et al.

American Journal of Medical Genetics. Part A, 2013

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."