Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.Q734P
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MYH7

NM_000257.4:p.Q734P

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

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

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

Marston NA et al.

European Heart Journal, 2021

33769460 (PubMed )
Supplement: ehab148_supplementary_appendix.pdf

Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

Marsiglia JD et al.

American Heart Journal, 2013

Global DNA methylation and transcriptional analyses of human ESC-derived cardiomyocytes.

Gu Y et al.

Protein & Cell, 2013

[Genetic heterogeneity of myosin heavy chain 7 gene G823E mutation in familial hypertrophic cardiomyopathy in Chinese].

Wang H et al.

Zhonghua Yi Xue Za Zhi, 2008

Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy.

Wang S et al.

Clinical Cardiology, 2008

Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy.

Yang JH et al.

Chinese Medical Journal, 2006

Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

Song L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005

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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."