Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.H694Y
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EZH2

NM_004456.5:p.H694Y

Associated Papers

Epidemiological survey of potential familial myelodysplastic syndromes/acute myeloid leukemia in Hawaii.

Takaoka K et al.

International Journal of Hematology, 2026

Monosomal karyotype and chromosome 17p loss or TP53 mutations in decitabine-treated patients with acute myeloid leukemia.

Becker H et al.

Annals of Hematology, 2020

32504186 (PubMed )
Supplement: 277_2020_4082_MOESM1_ESM.pdf

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Choufani S et al.

American Journal of Human Genetics, 2020

32243864 (PubMed )
Supplement: mmc2.xlsx › Table_S1-Discovery_WS

EZH2 mutations and impact on clinical outcome: an analysis in 1,604 patients with newly diagnosed acute myeloid leukemia.

Stasik S et al.

Haematologica, 2020

Impact of mutational variant allele frequency on prognosis in myelodysplastic syndromes.

Jiang L et al.

American Journal of Cancer Research, 2020

PRC2-complex related dysfunction in overgrowth syndromes: A review of EZH2, EED, and SUZ12 and their syndromic phenotypes.

Cyrus S et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2019

Association of EZH2 protein expression by immunohistochemistry in myelodysplasia related neoplasms with mutation status, cytogenetics and clinical outcomes.

McGraw KL et al.

British Journal of Haematology, 2019

Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

Cohen AS et al.

Human Mutation, 2016

Structural context of disease-associated mutations and putative mechanism of autoinhibition revealed by X-ray crystallographic analysis of the EZH2-SET domain.

Antonysamy S et al.

Plos One, 2013

Mutations in EZH2 cause Weaver syndrome.

Gibson WT et al.

American Journal of Human Genetics, 2012

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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."