Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.K666Q
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SF3B1

NM_012433.4:p.K666Q

Associated Papers

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

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

Distinct and convergent effects of SF3B1 mutations in human breast cancer.

Bergman RE et al.

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

41055979 (PubMed )
Supplement: pnas.2505374122.sapp.pdf

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

Boddu PC et al.

Biorxiv : the Preprint Server for Biology, 2025

Splicing factor 3b subunit 1 mutation patterns and prognostic implications in myelodysplastic syndromes, acute myeloid leukemia, and chronic lymphocytic leukemia: A retrospective study of 1691 cases.

Qiao C et al.

Cancer, 2025

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

Prevalence and clinical relavance of germline mutations in Chinese patients with pancreatic cancer.

Jiang Y et al.

Cell Communication and Signaling : Ccs, 2025

40544258 (PubMed )
Supplement: 12964_2025_2281_MOESM1_ESM.xlsx › RJ.P_LP.germline.final

A Comprehensive Guide to Achieving New York State Clinical Laboratory Evaluation Program Approval for Next-Generation Sequencing Assays.

Galbo PM et al.

The Journal of Molecular Diagnostics : Jmd, 2025

40158885 (PubMed )
Supplement: mmc8.xlsx › Sheet1

Clonal hematopoiesis is associated with distinct rheumatoid arthritis phenotypes.

Hiitola E et al.

Science Advances, 2025

40305610 (PubMed )
Supplement: sciadv.adt9846_tables_s1_to_s13.zip › adt9846_tables_s1_to_s13.xlsx › S10

Germline DNA Repair Gene Mutations and Clonal Hematopoiesis (CH) in 24,849 Patients with BRCA-Associated Cancers.

Marshall CH et al.

Cancers, 2025

40361359 (PubMed )
Supplement: cancers-17-01432-s001.zip › cancers-3524691-supplementary.xlsx › Sheet1

Error-corrected ultradeep next-generation sequencing for detection of clonal haematopoiesis and haematological neoplasms - sensitivity, specificity and accuracy.

Tursky ML et al.

Plos One, 2025

40009600 (PubMed )
Supplement: pone.0318300.s003.pdf

SF3B1K700E mutation in human embryonic stem cells causes aberrant expression of immune-related genes.

Dastpak M et al.

Plos One, 2025

41406100 (PubMed )
Supplement: pone.0334361.s003.xlsx › SF3B1

Colchicine prevents accelerated atherosclerosis in TET2-mutant clonal haematopoiesis.

Zuriaga MA et al.

European Heart Journal, 2024

39212933 (PubMed )
Supplement: ehae546_supplementary_data.pdf

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

Liquid biopsy-based circulating tumour (ct)DNA analysis of a spectrum of myeloid and lymphoid malignancies yields clinically actionable results.

Mata DA et al.

Histopathology, 2024

A Study of Alternative TrkA Splicing Identifies TrkAIII as a Novel Potentially Targetable Participant in PitNET Progression.

Sbaffone M et al.

Biology, 2024

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

Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.

Rostami MR et al.

Molecular Therapy. Methods & Clinical Development, 2023

38089635 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_III

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

Association of Germline Variation in Driver Genes with Breast Cancer Risk in Chilean Population.

Morales-Pison S et al.

International Journal of Molecular Sciences, 2023

Genetic modification of inflammation- and clonal hematopoiesis-associated cardiovascular risk.

Yu Z et al.

The Journal of Clinical Investigation, 2023

37498674 (PubMed )
Supplement: jci-133-168597-s140.pdf

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

Long-term longitudinal analysis of 4,187 participants reveals new insights into determinants of incident clonal hematopoiesis.

Uddin MM et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732181 (PubMed )
Supplement: media-2.xlsx › Table_S3

Leukocytes carrying Clonal Hematopoiesis of Indeterminate Potential (CHIP) Mutations invade Human Atherosclerotic Plaques.

von Scheidt M et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37546840 (PubMed )
Supplement: media-1.pdf

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 › SuppTable2

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

Choi IY et al.

Research Square, 2023

Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.

Zuo Z et al.

Biology, 2022

Detectability of Plasma-Derived Circulating Tumor DNA Panel in Patients Undergoing Primary Treatment for Uveal Melanoma.

Francis JH et al.

Investigative Ophthalmology & Visual Science, 2022

Compartment-specific mutational landscape of clonal hematopoiesis.

Hartmann L et al.

Leukemia, 2022

36131041 (PubMed )
Supplement: 41375_2022_1700_MOESM1_ESM.pdf

Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Kar SP et al.

Nature Genetics, 2022

35835912 (PubMed )
Supplement: 41588_2022_1121_MOESM3_ESM.xlsx › ST2

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM12_ESM.xlsx › MDS

SF3B1-mutant myelodysplastic syndrome/myeloproliferative neoplasms: a unique molecular and prognostic entity.

Mangaonkar AA et al.

Haematologica, 2022

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

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_SNVs

An improved molecular inversion probe based targeted sequencing approach for low variant allele frequency.

Biezuner T et al.

Nar Genomics and Bioinformatics, 2022

35156021 (PubMed )
Supplement: lqab125_supplemental_files.zip › Supplementary_Table_S1.xlsx › hotspots

Actionable Molecular Alterations Are Revealed in Majority of Advanced Non-Small Cell Lung Cancer Patients by Genomic Tumor Profiling at Progression after First Line Treatment.

Frank MS et al.

Cancers, 2021

35008297 (PubMed )
Supplement: cancers-14-00132-s001.zip › Supplementary_Table_S1.xlsx › Overview_ver2

Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations.

Venable ER et al.

American Journal of Clinical Pathology, 2021

33978189 (PubMed )
Supplement: aqab010_suppl_supplementary_materials.docx

Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients.

Janusz K et al.

Annals of Hematology, 2021

Differential RNA splicing as a potentially important driver mechanism in multiple myeloma.

Bauer MA et al.

Haematologica, 2021

Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study.

Sutton LA et al.

Haematologica, 2021

Somatic SF3B1 hotspot mutation in prolactinomas.

Li C et al.

Nature Communications, 2020

In Silico Analysis of a Highly Mutated Gene in Cancer Provides Insight into Abnormal mRNA Splicing: Splicing Factor 3B Subunit 1K700E Mutant.

Samy A et al.

Biomolecules, 2020

The K666N mutation in SF3B1 is associated with increased progression of MDS and distinct RNA splicing.

Dalton WB et al.

Blood Advances, 2020

Somatic SF3B1 mutations in myelodysplastic syndrome with ring sideroblasts and chronic lymphocytic leukaemia.

Foy A et al.

Journal of Clinical Pathology, 2019

Prognostic value and clinical feature of SF3B1 mutations in myelodysplastic syndromes: A meta-analysis.

Tang Y et al.

Critical Reviews in Oncology/hematology, 2019

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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."