Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.I704N
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SF3B1

NM_012433.4:p.I704N

Associated Papers

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

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

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

Long-read transcriptome sequencing of CLL and MDS patients uncovers molecular effects of SF3B1 mutations.

Pacholewska A et al.

Genome Research, 2024

Multi-target measurable residual disease assessed by error-corrected sequencing in patients with acute myeloid leukemia: An ALFA study.

Hirsch P et al.

Blood Cancer Journal, 2024

38871702 (PubMed )
Supplement: 41408_2024_1078_MOESM1_ESM.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

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM10_ESM.xlsx › S10

Machine learning models-based on integration of next-generation sequencing testing and tumor cell sizes improve subtype classification of mature B-cell neoplasms.

Mu Y et al.

Frontiers in Oncology, 2023

37601650 (PubMed )
Supplement: Table_1.xlsx › Supplement_Tab.3

Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.

Zuo Z et al.

Biology, 2022

Comprehensive genomic analysis of refractory multiple myeloma reveals a complex mutational landscape associated with drug resistance and novel therapeutic vulnerabilities.

Giesen N et al.

Haematologica, 2022

35045690 (PubMed )
Supplement: 2021_279360_GIESEN_TABS2_SUPPL.xlsx › somatic_small_functional_varian

Altered DNA Methylation Profiles in SF3B1 Mutated CLL Patients.

Pacholewska A et al.

International Journal of Molecular Sciences, 2021

34502260 (PubMed )
Supplement: ijms-22-09337-s001.zip › Supplementary_Material.pdf

Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.

Tausch E et al.

Haematologica, 2020

33054084 (PubMed )
Supplement: 2019.229161.TAUSCH_SUPPL.pdf

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

Mutations driving CLL and their evolution in progression and relapse.

Landau DA et al.

Nature, 2015

26466571 (PubMed )
Supplement: NIHMS715090-supplement-Supplementary_Table_10.xlsx › CCF_DP_clustering

Acquired initiating mutations in early hematopoietic cells of CLL patients.

Damm F et al.

Cancer Discovery, 2014

24920063 (PubMed )
Supplement: 21598290cd140104-sup-tab1.xls › CLL13

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

Papaemmanuil E et al.

The New England Journal of Medicine, 2011

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