Varaico: Literature-Extracted Genetic Variants

Gene:TPM2
Variant:p.E181K
Back to variants list

TPM2

NM_003289.4:p.E181K

Associated Papers

Myopathy-linked mutations in TPM2 and their impact on troponin-mediated regulation of actomyosin contractility.

Küçükdogru R et al.

The Febs Journal, 2025

Variants in tropomyosins TPM2 and TPM3 causing muscle hypertonia.

Wallgren-Pettersson C et al.

Neuromuscular Disorders : Nmd, 2024

Mechanochemical consequences of myopathy-linked mutations in Tpm2.2 on striated muscle contractility.

Küçükdogru R et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024

Novel mutations in TPM2 and PIEZO2 are responsible for distal arthrogryposis (DA) 2B and mild DA in two Chinese families.

Li S et al.

Bmc Medical Genetics, 2018

Why Is there a Limit to the Changes in Myofilament Ca2+-Sensitivity Associated with Myopathy Causing Mutations?

Marston SB

Frontiers in Physiology, 2016

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

Gupte TM et al.

The Journal of Biological Chemistry, 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

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

Tropomodulins and tropomyosins: working as a team.

Colpan M et al.

Journal of Muscle Research and Cell Motility, 2013

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms.

Ochala J et al.

Human Molecular Genetics, 2012

Whole-Body muscle MRI in a series of patients with congenital myopathy related to TPM2 gene mutations.

Jarraya M et al.

Neuromuscular Disorders : Nmd, 2012

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."