Varaico: Literature-Extracted Genetic Variants

Gene:EZH2
Variant:p.H694R
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EZH2

NM_004456.5:p.H694R

Associated Papers

Myeloid sarcoma shows a high frequency of mutations activating the MAPK/ERK pathway and association with clonal hematopoiesis.

Nann D et al.

The Journal of Pathology. Clinical Research, 2025

40906433 (PubMed )
Supplement: CJP2-11-e70044-s001.pdf

Broad Next-Generation Integrated Sequencing of Myelofibrosis Identifies Disease-Specific and Age-Related Genomic Alterations.

Kandarpa M et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

38386293 (PubMed )
Supplement: ccr-23-0372_supplemental_table_2_suppst2.xlsx › Suppl._Table_2

Comprehensive Analysis of Acquired Genetic Variants and Their Prognostic Impact in Systemic Mastocytosis.

González-López O et al.

Cancers, 2022

Novel recurrent mutations in ethanolamine kinase 1 (ETNK1) gene in systemic mastocytosis with eosinophilia and chronic myelomonocytic leukemia.

Lasho TL et al.

Blood Cancer Journal, 2015

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

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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."