Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.K700E
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SF3B1

NM_012433.4:p.K700E

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

Circular RNA expression landscapes in myelodysplastic neoplasms: Associations with mutational signatures and disease progression.

Wedge E et al.

Molecular Oncology, 2026

SF3B1K700E rewires splicing of cell cycle regulators.

Baker M et al.

Rna (new York, N.y.), 2026

NOTCH1 and SF3B1 mutations in chronic lymphocytic leukemia with their clinical associations.

Ahmed VR et al.

Leukemia & Lymphoma, 2026

Mesangial sclerosing glomerulopathy following luspatercept treatment - a case report.

Bataille S et al.

Bmc Nephrology, 2026

BESTish: A Diffusion-Approximation Framework for Inferring Selection and Mutation in Clonal Hematopoiesis.

Wang RY et al.

Biorxiv : the Preprint Server for Biology, 2026

B-cell acute lymphoblastic leukemia following myelodysplastic syndromes: a case report and literature review.

Ding H et al.

Journal of Hematopathology, 2026

SF3B1 mutations in spliceosome-driven tumorigenesis: From splicing dysregulation to signaling network rewiring and therapeutic targeting.

Yang T et al.

Biochimica Et Biophysica Acta. Reviews on Cancer, 2026

Clinical Characteristics and Molecular Profiling of SF3B1-Mutated Myelodysplastic Syndrome (MDS) in a Real-World Practice.

Wang RR et al.

International Journal of Molecular Sciences, 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

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Uguen K et al.

Nature Communications, 2026

A framework for the molecular identification of CHIP for clinical research.

Harraka P et al.

Hgg Advances, 2026

41566785 (PubMed )
Supplement: mmc1.pdf

SF3B1 Phosphorylation Prompts U2AF2 Dissociation for Widespread Control of pre-mRNA Splicing.

Kirchhoff CL et al.

Biorxiv : the Preprint Server for Biology, 2026

Impact of Mutational Landscape and Burden on RBC Transfusion Response in Patients With Lower-Risk Myelodysplastic Syndromes (LR-MDS) in the COMMANDS Study.

Komrokji RS et al.

American Journal of Hematology, 2026

Low-VAF TP53-Mutated AML Displays Distinct Biological Features in a Single-Center Cohort.

Lu X et al.

Biomedicines, 2026

41595714 (PubMed )
Supplement: biomedicines-14-00180-s001.zip › biomedicines-4047568-supplementary.pdf

Systematic evaluation of neoepitope predictions challenges clinically observed T-cell responses and their impact on immune evasion.

Zaghla BKQ et al.

Journal for Immunotherapy of Cancer, 2026

Targeting EZH2 Oncogenic Splicing: Decoding the Regulatory Network and Antisense Correction.

Islam MR et al.

Biorxiv : the Preprint Server for Biology, 2026

PRIME: an interpretable artificial intelligence model based on liquid biopsy improves prediction of progression risk in non-small cell lung cancer.

Wang Y et al.

Military Medical Research, 2026

41491583 (PubMed )
Supplement: 40779_2025_679_MOESM1_ESM.xlsx › Table_S8

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

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 › S4_Table

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

Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.

Allsopp RC et al.

Bmc Cancer, 2025

41351070 (PubMed )
Supplement: 12885_2025_15187_MOESM1_ESM.zip › Supp_Table_1.xlsx › Sheet1

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

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

Paira S et al.

Rna Biology, 2025

Precursor RNA structural patterns at SF3B1 mutation sensitive cryptic 3' splice sites.

Herbert A et al.

Rna Biology, 2025

Alternative Splicing: Molecular Mechanisms, Biological Functions, Diseases, and Potential Therapeutic Targets.

Zhu ZM et al.

Medcomm, 2025

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

Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.

Krigstein M et al.

Annals of Laboratory Medicine, 2025

41277019 (PubMed )
Supplement: ALM3692_Supple1.xlsx › Reference_Standard

An inflammatory T-cell-stromal axis contributes to hematopoietic stem/progenitor cell failure and clonal evolution in human myelodysplastic syndrome.

Chen L et al.

Nature Communications, 2025

41253768 (PubMed )
Supplement: 41467_2025_65802_MOESM3_ESM.xlsx › Sheet1

Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region.

Velayutham D et al.

Cells, 2025

Novel and emerging therapeutic strategies for clonal haematopoiesis.

Hosseini M et al.

Haematologica, 2025

BRD9 depletion-mediated ALOX5 upregulation via chromatin dysregulation induces ferroptosis in SF3B1-mutant hematopoiesis.

Saika W et al.

International Journal of Hematology, 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

SF3B1-mutant models of RNA mis-splicing uncover UBA1 as a therapeutic target in myelodysplastic neoplasms.

Thier J et al.

Leukemia, 2025

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM1_ESM.pdf

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

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

Salani F et al.

Esmo Open, 2025

41167083 (PubMed )
Supplement: mmc4.xlsx › Table_S10B

Pharmacological profiling in CLL patients during pirtobrutinib therapy and disease progression.

Tantawy SI et al.

Blood Cancer Journal, 2025

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

Steinauer N et al.

Current Hematologic Malignancy Reports, 2025

High Prevalence of Potential Molecular Therapeutic Targets in Poorly Differentiated Thyroid Carcinoma.

Zambelli V et al.

Endocrine Pathology, 2025

41123735 (PubMed )
Supplement: 12022_2025_9883_MOESM4_ESM.xlsx › Foglio1
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