Varaico: Literature-Extracted Genetic Variants

Gene:MYH2
Variant:p.E1841K
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MYH2

NM_017534.6:p.E1841K

Associated Papers

MYH9 mutations differentially stabilize non-muscle myosin II filaments and induce distinct cellular aggregation phenotypes.

Llorente-González C et al.

Cellular and Molecular Life Sciences : Cmls, 2026

Renin-angiotensin System Blockade Therapy for Early Renal Involvement in MYH9-related Disease with an E1841K Mutation.

Tanaka M et al.

Internal Medicine (tokyo, Japan), 2019

Macrothrombocytopenia With Döhle Body-Like Granulocyte Inclusions: A Case Report of May-Hegglin Anomaly in a 33-Year-Old White Woman With an Update on the Molecular Findings of MYH9-Related Disease.

Ruhoy SM et al.

Laboratory Medicine, 2016

Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders.

Saposnik B et al.

Molecular Genetics & Genomic Medicine, 2014

MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations.

Pecci A et al.

Human Mutation, 2014

Clinical, pathological, and genetic analysis of ten patients with MYH9-related disease.

Sun XH et al.

Acta Haematologica, 2013

[Clinical features and gene analyses of six patients with MYH9-related disease].

Sun XH et al.

Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2012

MYH9-related platelet disorders.

Althaus K et al.

Seminars in Thrombosis and Hemostasis, 2009

Position of nonmuscle myosin heavy chain IIA (NMMHC-IIA) mutations predicts the natural history of MYH9-related disease.

Pecci A et al.

Human Mutation, 2008

Haematological characteristics of MYH9 disorders due to MYH9 R702 mutations.

Kunishima S et al.

European Journal of Haematology, 2007

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.

Pecci A et al.

Human Molecular Genetics, 2005

Rod mutations associated with MYH9-related disorders disrupt nonmuscle myosin-IIA assembly.

Franke JD et al.

Blood, 2005

Asp1424Asn MYH9 mutation results in an unstable protein responsible for the phenotypes in May-Hegglin anomaly/Fechtner syndrome.

Deutsch S et al.

Blood, 2003

Expression of the nonmuscle myosin heavy chain IIA in the human kidney and screening for MYH9 mutations in Epstein and Fechtner syndromes.

Arrondel C et al.

Journal of the American Society of Nephrology : Jasn, 2002

Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease.

Verver EJ et al.

Ear and Hearing, 0

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