Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.L98fs
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RUNX1

NM_001754.5:p.L98fs

Associated Papers

Single-cell Transcriptional Atlas of Human Hematopoiesis Reveals Genetic and Hierarchy-Based Determinants of Aberrant AML Differentiation.

Zeng AGX et al.

Blood Cancer Discovery, 2025

40294241 (PubMed )
Supplement: bcd-24-0342_supplementary_tables_s1-s21_suppst1.xlsx › S18_-_Tapestri_CO131_Panel

Case Report: A rare RUNX1 rearrangement resulting from t(8;21)(p12;q22) in acute myeloid leukemia with plasmacytoid dendritic cell expansion.

Gong J et al.

Frontiers in Oncology, 2025

41103945 (PubMed )
Supplement: Table1.xlsx › Table_S1

Risk prediction for clonal cytopenia: multicenter real-world evidence.

Xie Z et al.

Blood, 2024

38996210 (PubMed )
Supplement: BLOOD_BLD-2024-024756-mmc1.pdf

Acquired mutations in BAX confer resistance to BH3-mimetic therapy in acute myeloid leukemia.

Moujalled DM et al.

Blood, 2023

36219880 (PubMed )
Supplement: BLOOD_BLD-2022-016090-mmc1.pdf

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

Therapy-related myeloid neoplasms resembling juvenile myelomonocytic leukemia: a case series and review of the literature.

Wintering A et al.

Pediatric Blood & Cancer, 2022

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_Indels

Mutational spectrum and prognosis in Chinese patients with prefibrotic primary myelofibrosis.

Cheng CK et al.

Ejhaem, 2022

35846205 (PubMed )
Supplement: JHA2-3-184-s002.xlsx › All_MPN_cases

Clinical and genomic characterization of patients diagnosed with the provisional entity acute myeloid leukemia with BCR-ABL1, a Swedish population-based study.

Orsmark-Pietras C et al.

Genes, Chromosomes & Cancer, 2021

How I curate: applying American Society of Hematology-Clinical Genome Resource Myeloid Malignancy Variant Curation Expert Panel rules for RUNX1 variant curation for germline predisposition to myeloid malignancies.

Wu D et al.

Haematologica, 2020

H3K27M/I mutations promote context-dependent transformation in acute myeloid leukemia with RUNX1 alterations.

Lehnertz B et al.

Blood, 2017

Frequency and Clinicopathologic Features of RUNX1 Mutations in Patients With Acute Myeloid Leukemia Not Otherwise Specified.

You E et al.

American Journal of Clinical Pathology, 2017

Biological Activities of RUNX1 Mutants Predict Secondary Acute Leukemia Transformation from Chronic Myelomonocytic Leukemia and Myelodysplastic Syndromes.

Tsai SC et al.

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