Varaico: Literature-Extracted Genetic Variants

Gene:U2AF1
Variant:p.S34F
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U2AF1

NM_006758.3:p.S34F

Associated Papers

Clonal Hematopoiesis of Indeterminate Potential and Clonal Cytopenias of Undetermined Significance: 2026 Update on Clinical Associations and Management Recommendations.

Mangaonkar AA et al.

American Journal of Hematology, 2026

CALR-mutant myeloproliferative neoplasms: insights from next-generation sequencing.

Mroczkowska-Bękarciak A et al.

Journal of Applied Genetics, 2026

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

Jia A et al.

Cell Metabolism, 2026

Splicing-driven post-translational dysregulation: a new frontier for precision cancer medicine and immunotherapy.

Alatawi S

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2026

FBXO11 suppression rewires an NPM1-centered interactome influencing the progression of myelodysplastic syndrome.

Niederkorn M et al.

The Journal of Clinical Investigation, 2026

41542766 (PubMed )
Supplement: jci-136-193636-s047.xlsx › Patient_samples

Association of ASXL1 and RUNX1 Variants with Splenomegaly in Myelodysplastic Syndromes Based on Next-generation Sequencing and Computed Tomography Data: A Retrospective Study.

Huh Y et al.

Annals of Laboratory Medicine, 2026

40619576 (PubMed )
Supplement: alm-46-1-104-supple1.xlsx › TableS3

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc4.xlsx › Sheet_1

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Clonal hematopoiesis associates with prevalent and incident cardiometabolic disease in a cardiac catheterization cohort.

Regan JA et al.

Plos One, 2026

41666166 (PubMed )
Supplement: pone.0339491.s009.xlsx › S2_Table

Clonal architecture of FLT3-ITD and acquired 13q uniparental disomy define prognostic heterogeneity and therapeutic vulnerabilities in acute myeloid leukemia.

Lai A et al.

Neoplasia (new York, N.y.), 2025

41411742 (PubMed )
Supplement: mmc2.xlsx › Sheet1

How to Read a Next-Generation Sequencing Report for AML and MDS? What Hematologists Need to Know.

Perrone S et al.

Journal of Clinical Medicine, 2025

Ancestry-dependent patterns of somatic mosaicism and clonal hematopoiesis mutations in over 125,000 individuals reveal distinct cancer associations.

Colin-Leitzinger C et al.

Human Genomics, 2025

41331781 (PubMed )
Supplement: 40246_2025_847_MOESM1_ESM.pdf

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › B_Tissue_as_normal

Multipurpose RNA maturation factors dysregulate multiple mRNA processing steps simultaneously and provide new therapeutic opportunities.

Paira S et al.

Rna Biology, 2025

Evaluation of Long-Read Genome Sequencing for Genomic Profiling of Myeloid Cancers.

Abel HJ et al.

The Journal of Molecular Diagnostics : Jmd, 2025

41016628 (PubMed )
Supplement: mmc14.xlsx › Sheet1

Clonal hematopoiesis in apparent treatment-resistant hypertension, insights from multiple medical centers and community-based cohorts.

Lv C et al.

Nature Aging, 2025

41286462 (PubMed )
Supplement: 43587_2025_1017_MOESM4_ESM.xlsx › Sheet1

Alternative splicing: from tumorigenesis to neoantigen-mediated cancer immunotherapy.

Lv YH et al.

Biomarker Research, 2025

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

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants

Mutation of CMTR2 in Lung Adenocarcinoma Alters RNA Alternative Splicing and Reveals Therapeutic Vulnerabilities.

Nukaga S et al.

Nature Communications, 2025

41198678 (PubMed )
Supplement: 41467_2025_64821_MOESM1_ESM.pdf

Oncogenic DEAD-box ATPase DDX41 establishes transcript ensembles via CLK3-dependent and -independent mechanisms.

Kim JA et al.

Nature Communications, 2025

Generative Design of Cell Type-Specific RNA Splicing Elements for Programmable Gene Regulation.

Chen XD et al.

Biorxiv : the Preprint Server for Biology, 2025

A Subset of Serous Tubal Intraepithelial Carcinoma (STIC)-Like Lesions and Concurrent High-Grade Endometrial Carcinoma Are Genomically Related Entities.

da Silva EM et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025

Mutation profiling of chronic myeloproliferative neoplasms: improving clinical-molecular prognostic models.

Loscocco GG et al.

Expert Review of Molecular Diagnostics, 2025

Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

Splicing Factor Mutations in Chronic Myelomonocytic Leukemia: Biological Consequences and Therapeutic Implications.

Steinauer N et al.

Current Hematologic Malignancy Reports, 2025

Dyskeratosis Congenita Complicated by Pulmonary Fibrosis and Myelodysplastic Syndrome with a Germline Mutation of the DKC1 Gene and a Somatic Mutation of the U2AF1 Gene in Leukocytes.

Watanabe H et al.

Internal Medicine (tokyo, Japan), 2025

A Unifying Mechanism for Shared Splicing Aberrations in Splicing Factor Mutant Cancers.

Boddu PC et al.

Biorxiv : the Preprint Server for Biology, 2025

Sensitivity to ATR-CHK1 pathway inhibition in AML/MDS is enhanced by SRSF2 mutations and reduced by RUNX1 loss.

Eldfors S et al.

Biorxiv : the Preprint Server for Biology, 2025

Long-term outcomes in FLT3-mutated acute myeloid leukemia after frontline hypomethylating agent, venetoclax and a FLT3 inhibitor.

Short NJ et al.

Haematologica, 2025

A Relapsed AML Case Featuring MYC and MECOM Rearrangements.

Murgas KA et al.

Diagnostics (basel, Switzerland), 2025

U2AF1 mutations rescue deleterious exon skipping induced by KRAS mutations.

Walter DM et al.

Biorxiv : the Preprint Server for Biology, 2025

Aberrant splicing of CHEK1 is a driver of megakaryocytic dysplasia in U2AF1S34F mutant myelodysplastic neoplasms.

Zhang W et al.

Leukemia, 2025

Clonal haematopoiesis associates with distinct cytometric changes of red blood cells and platelets.

Salzbrunn JB et al.

British Journal of Haematology, 2025

40754673 (PubMed )
Supplement: BJH-207-1085-s002.xlsx › MCV_cohort

Telomere attrition becomes an instrument for clonal selection in aging hematopoiesis and leukemogenesis.

McLoughlin MA et al.

Nature Genetics, 2025

40877435 (PubMed )
Supplement: 41588_2025_2296_MOESM4_ESM.xlsx › SupplementaryTable12

The effect of U2AF1 mutation on erythroid differentiation and sensitivity to demethylation drug treatment.

Liu Y et al.

Medical Oncology (northwood, London, England), 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

SUGP1 loss drives SF3B1 hotspot mutant missplicing in cancer.

Xing P et al.

Cell Reports, 2025

MutationAssessor in cBioPortal.

Su Y et al.

Biorxiv : the Preprint Server for Biology, 2025

40832239 (PubMed )
Supplement: media-1.pdf

Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy.

Liu J et al.

Nature Genetics, 2025

40664769 (PubMed )
Supplement: 41588_2025_2250_MOESM1_ESM.pdf

Integrating Molecular Alterations with Immunophenotype and Clinical Characteristics in Myelodysplastic Syndromes: A Single-Center Study.

Majcherek M et al.

International Journal of Molecular Sciences, 2025

40806511 (PubMed )
Supplement: ijms-26-07382-s001.zip › ijms-3714525-supplementary.pdf

Distinct characteristics of lymphoid and myeloid clonal hematopoiesis in World Trade Center first responders.

Esai Selvan M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

40778119 (PubMed )
Supplement: media-2.pdf

Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.

Kato T et al.

British Journal of Cancer, 2025

40325148 (PubMed )
Supplement: 41416_2025_2985_MOESM2_ESM.xlsx › Supplementary_Table_S2

Clonal Hematopoiesis of Indeterminate Potential Is Associated With Incident Abdominal Aortic Aneurysm.

Tan Y et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2025

40336477 (PubMed )
Supplement: atvb-2024-322630-s01.pdf

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

Generative prediction of causal gene sets responsible for complex traits.

Kuznets-Speck B et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40504147 (PubMed )
Supplement: pnas.2415071122.sd01.xlsx › Metadata_Table

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc3.xlsx › All
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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."