Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.W279*
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RUNX1

NM_001754.5:p.W279*

Associated Papers

Expanding the phenotypic spectrum of DDX41-related myeloid neoplasms: a case of mature plasmacytoid dendritic cell proliferation associated with acute myeloid leukemia with germline DDX41 mutation.

Li THS et al.

Leukemia & Lymphoma, 2025

Raw lacquer-associated familial chronic myelomonocytic leukemia with multi-hit TET2 mutations.

Zhang Y et al.

Frontiers in Oncology, 2025

Efficacy of novel agents against cellular models of familial platelet disorder with myeloid malignancy (FPD-MM).

Mill CP et al.

Blood Cancer Journal, 2024

38316746 (PubMed )
Supplement: 41408_2024_981_MOESM2_ESM.pdf

Somatic mutational landscape of hereditary hematopoietic malignancies caused by germline variants in RUNX1, GATA2, and DDX41.

Homan CC et al.

Blood Advances, 2023

37406166 (PubMed )
Supplement: BLOODA_ADV-2023-010045-mmc2.xlsx › Genomics_Cohorts

Postazacitidine clone size predicts long-term outcome of patients with myelodysplastic syndromes and related myeloid neoplasms.

Nannya Y et al.

Blood Advances, 2023

36989067 (PubMed )
Supplement: BLOODA_ADV-2022-009564-mmc2.xlsx › SuppTable3

The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy.

Homan CC et al.

Haematologica, 2021

34233450 (PubMed )
Supplement: 2021_278762_HOMAN_TABLE1_SUPPL.xlsx › Germline_RUNX1_registry

Germline mutations and blood malignancy (Review).

Gong Y et al.

Oncology Reports, 2021

Analytical and Potential Clinical Performance of Oncomine Myeloid Research Assay for Myeloid Neoplasms.

Park J et al.

Molecular Diagnosis & Therapy, 2020

Bone marrow pathologic abnormalities in familial platelet disorder with propensity for myeloid malignancy and germline RUNX1 mutation.

Kanagal-Shamanna R et al.

Haematologica, 2017

Role of RUNX1 in hematological malignancies.

Sood R et al.

Blood, 2017

Comprehensive mutational analysis of primary and relapse acute promyelocytic leukemia.

Madan V et al.

Leukemia, 2016

27063598 (PubMed )
Supplement: leu201669x7.xls › Sheet_1

Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).

DiNardo CD et al.

Clinical Lymphoma, Myeloma & Leukemia, 2016

Detection of an Abnormal Myeloid Clone by Flow Cytometry in Familial Platelet Disorder With Propensity to Myeloid Malignancy.

Ok CY et al.

American Journal of Clinical Pathology, 2016

Genomic analysis of germ line and somatic variants in familial myelodysplasia/acute myeloid leukemia.

Churpek JE et al.

Blood, 2015

Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

Wong TN et al.

Nature, 2015

25487151 (PubMed )
Supplement: NIHMS635306-supplement-5.xlsx › taml.extension.all.tier1.2013.0

Two novel RUNX1 mutations in a patient with congenital thrombocytopenia that evolved into a high grade myelodysplastic syndrome.

Schmit JM et al.

Leukemia Research Reports, 2015

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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."