Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.Q734E
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MYH7

NM_000257.4:p.Q734E

Associated Papers

Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case series.

Ryu SW et al.

Cardiovascular Diagnosis and Therapy, 2025

41509624 (PubMed )
Supplement: cdt-15-06-1174-supplementary.pdf

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants.

García Hernandez S et al.

Circulation, 2025

40879562 (PubMed )
Supplement: cir-152-1060-s002.xlsx › S2._HCM_cohort_variant_classif.

Mavacamten inhibits myosin activity by stabilising the myosin interacting-heads motif and stalling motor force generation.

McMillan SN et al.

Biorxiv : the Preprint Server for Biology, 2025

Cryo-EM structure of the folded-back state of human β-cardiac myosin.

Grinzato A et al.

Biorxiv : the Preprint Server for Biology, 2023

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S1

Retrospective analysis of clinical phenotype and prognosis of hypertrophic cardiomyopathy complicated with hypertension.

Luo Q et al.

Scientific Reports, 2020

Familial hypertrophic cardiomyopathy caused by a de novo Gly716Arg mutation of the β-myosin heavy chain.

Zhao P et al.

Cardiology in the Young, 2017

Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

García-Giustiniani D et al.

Heart (british Cardiac Society), 2015

[Pro731Ser mutation in the β-myosin heavy chain and hypertrophic cardiomyopathy in a Chinese pedigree].

Zhao X et al.

Zhonghua Xin Xue Guan Bing Za Zhi, 2014

Sarcomeric protein mutations in dilated cardiomyopathy.

Chang AN et al.

Heart Failure Reviews, 2005

What is the value of mutation identification in familial hypertrophic cardiomyopathy?

Yu B

Iubmb Life, 2004

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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."