Varaico: Literature-Extracted Genetic Variants

Gene:RUNX1
Variant:p.R201Q
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RUNX1

NM_001754.5:p.R201Q

Associated Papers

Dual targeting of SLC25A51 and succinate dehydrogenase selectively depletes mitochondrial NAD+ to eradicate KRAS-driven AML.

Jia A et al.

Cell Metabolism, 2026

Deficiencies in germline DNA repair are associated with early-onset gastrointestinal cancers and inform precision prevention strategies.

Yang W et al.

Journal of Translational Medicine, 2025

41444968 (PubMed )
Supplement: 12967_2025_7595_MOESM1_ESM.xlsx › Table_S1

Proteomic subtypes enrich current acute myeloid leukemia nomenclature and reflect intrinsic pathogenesis alongside aging.

Cheng WY et al.

Blood, 2025

40829168 (PubMed )
Supplement: BLOOD_BLD-2024-027692-mmc5.xlsx › Sheet_1

Characterizing VEXAS syndrome in women: Findings from an international multicenter study.

Bourguiba R et al.

Journal of Internal Medicine, 2025

A single nucleotide polymorphism in the TCL1A promoter is not protective in patients with germ line RUNX1-FPD.

Kajdic A et al.

Blood Neoplasia, 2025

41127867 (PubMed )
Supplement: BNEO_NEO-2025-000690-mmc1.pdf

Leveraging genomic diagnostics for prognostics and therapeutics in pediatric acute leukemia.

Newman H et al.

Hemasphere, 2025

41306327 (PubMed )
Supplement: HEM3-9-e70269-s013.xlsx › Supplemental_Table_5_-_SSVs

CBFβ-SMMHC-driven leukemogenesis requires enhanced RUNX1-DNA binding affinity in mice.

Zhen T et al.

The Journal of Clinical Investigation, 2025

The role of ASXL1, SRSF2, and EZH2 mutations in chromatin dysregulation of myelodysplastic neoplasia and acute myeloid leukemia.

Yu H et al.

Leukemia, 2025

Comparative outcome and prognostic factor analysis among MDS/AML patients with TP53 mutations, snps, and wild type.

Yang X et al.

Human Genomics, 2025

40877983 (PubMed )
Supplement: 40246_2025_792_MOESM2_ESM.xlsx › Table_S4

Validation of Guidelines for Genetic Investigation of Myeloid Neoplasms with Germline Predisposition: Results from a Prospective Cohort Study.

Tesi B et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40388595 (PubMed )
Supplement: ccr-24-4251_supplementary_table_3_suppst3.xlsx › Supplementary_table_3

Circulating Tumour DNA Is a Biomarker of Response in Angioimmunoblastic T-Cell Lymphoma.

Yannakou CK et al.

International Journal of Molecular Sciences, 2025

40724970 (PubMed )
Supplement: ijms-26-06719-s001.zip › ijms-3716857-supplementary.pdf

Somatic mutations and outcomes in chronic myeloid leukemia adolescent and young adults compared to children, adults, and BCR::ABL1-positive acute lymphoblastic leukemia.

Krizkova J et al.

Leukemia, 2025

Impact of myelodysplasia-related gene mutations and residual mutations at remission in venetoclax/azacitidine for AML.

Ikoma Y et al.

Leukemia, 2025

40259101 (PubMed )
Supplement: 41375_2025_2625_MOESM2_ESM.xlsx › Sheet5

Low WT1 Expression Identifies a Subset of Acute Myeloid Leukemia with a Distinct Genotype.

Rondoni M et al.

Cancers, 2025

40227798 (PubMed )
Supplement: cancers-17-01213-s001.zip › cancers-3416916-supplementary.pdf

Targeting the CD74 signaling axis suppresses inflammation and rescues defective hematopoiesis in RUNX1-familial platelet disorder.

Mohammadhosseini M et al.

Science Translational Medicine, 2025

Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial Platelet Disorder with associated Myeloid Malignancy).

Ernst MPT et al.

Hemasphere, 2025

39822584 (PubMed )
Supplement: HEM3-9-e70057-s001.xlsx › Sheet1

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

RUNX1-FPDMM in families with mild thrombocytopenia and platelet function anomalies: a case series.

Glonnegger H et al.

Frontiers in Medicine, 2025

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

Xie Z et al.

Blood, 2024

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

Tracking Rare Single Donor and Recipient Immune and Leukemia Cells after Allogeneic Hematopoietic Cell Transplantation Using Mitochondrial DNA Mutations.

Penter L et al.

Blood Cancer Discovery, 2024

Tracking Response and Resistance in Acute Myeloid Leukemia through Single-Cell DNA Sequencing Helps Uncover New Therapeutic Targets.

Bruno S et al.

International Journal of Molecular Sciences, 2024

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.

Choi IY et al.

Blood Advances, 2024

38759096 (PubMed )
Supplement: BLOODA_ADV-2023-011260-mmc1.pdf

Interface-guided phenotyping of coding variants in the transcription factor RUNX1.

Ozturk K et al.

Cell Reports, 2024

Mutation order in acute myeloid leukemia identifies uncommon patterns of evolution and illuminates phenotypic heterogeneity.

Schwede M et al.

Leukemia, 2024

FLI1 is associated with regulation of DNA methylation and megakaryocytic differentiation in FPDMM caused by a RUNX1 transactivation domain mutation.

Tanaka Y et al.

Scientific Reports, 2024

Establishment and validation of a gene mutation-based risk model for predicting prognosis and therapy response in acute myeloid leukemia.

Liu Y et al.

Heliyon, 2024

38831838 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Mutant U2AF1-Induced Mis-Splicing of mRNA Translation Genes Confers Resistance to Chemotherapy in Acute Myeloid Leukemia.

Jin P et al.

Cancer Research, 2024

38417135 (PubMed )
Supplement: can-23-2543_supplementary_table_s1-s20_suppst1-20.xlsx › Table20

Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting.

Kubota Y et al.

Nature Communications, 2024

38418452 (PubMed )
Supplement: 41467_2024_46134_MOESM5_ESM.xlsx › Supplementary_Data_2

Runx1-R188Q germ line mutation induces inflammation and predisposition to hematologic malignancies in mice.

Ahmad MH et al.

Blood Advances, 2023

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

Mutation order in acute myeloid leukemia identifies uncommon patterns of evolution and illuminates phenotypic heterogeneity.

Schwede M et al.

Research Square, 2023

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

Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.

McCarter JGW et al.

Blood Advances, 2023

37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations

The Mutational, Prognostic, and Therapeutic Landscape of Neuroendocrine Neoplasms.

Liu M et al.

The Oncologist, 2023

37086484 (PubMed )
Supplement: oyad093_suppl_supplementary_table_1.xlsx › Genetic_Variations

Interface-guided phenotyping of coding variants in the transcription factor RUNX1 with SEUSS.

Ozturk K et al.

Biorxiv : the Preprint Server for Biology, 2023

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

RUNX1 is required in granulocyte-monocyte progenitors to attenuate inflammatory cytokine production by neutrophils.

Zezulin AU et al.

Genes & Development, 2023

RUNX1 mutation has no prognostic significance in paediatric AML: a retrospective study of the AML-BFM study group.

Sendker S et al.

Leukemia, 2023

Impact of gene alterations on clinical outcome in young adults with myelodysplastic syndromes.

Konishi T et al.

Scientific Reports, 2023

36788335 (PubMed )
Supplement: 41598_2023_29794_MOESM2_ESM.xlsx › Supplementary_Table_2

Germline RUNX1 variants in paediatric patients in a French specialised centre.

Liu C et al.

Ejhaem, 2023

RUNX1 is required in granulocyte-monocyte progenitors to attenuate inflammatory cytokine production by neutrophils.

Zezulin AU et al.

Biorxiv : the Preprint Server for Biology, 2023

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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."