Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.K156E
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EZH2

NM_004456.5:p.K156E

Associated Papers

Dominant-negative effects of Weaver syndrome-associated EZH2 variants.

Deevy O et al.

Genes & Development, 2025

Mutational mechanisms of EZH2 inactivation in myeloid neoplasms.

Chase A et al.

Leukemia, 2020

EZH2 in Myeloid Malignancies.

Rinke J et al.

Cells, 2020

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

Choufani S et al.

American Journal of Human Genetics, 2020

Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

Tatton-Brown K et al.

American Journal of Human Genetics, 2017

28475857 (PubMed )
Supplement: mmc2.xlsx › Supplementary_Table_1

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height.

Tatton-Brown K et al.

Oncotarget, 2011

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