Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.V701F
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SF3B1

NM_012433.4:p.V701F

Associated Papers

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

SUGP1 loss drives SF3B1 hotspot mutant missplicing in cancer.

Xing P et al.

Cell Reports, 2025

40714635 (PubMed )
Supplement: NIHMS2107270-supplement-9.xlsx › Table_S1

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 genetic variant analysis reveals combination of KRAS and LRP1B as a predictive biomarker of response to immunotherapy in patients with non-small cell lung cancer.

Eklund EA et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2025

40011914 (PubMed )
Supplement: 13046_2025_3342_MOESM5_ESM.xlsx › P_and_LP

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

Influence of the Bone Marrow Microenvironment on Hematopoietic Stem Cell Behavior Post-Allogeneic Transplantation: Development of Clonal Hematopoiesis and Telomere Dynamics.

Kim M et al.

International Journal of Molecular Sciences, 2024

39408588 (PubMed )
Supplement: ijms-25-10258-s001.zip › Table_S1.pdf

Clonal Dynamics and Relapse Risk Revealed by High-Sensitivity FLT3-Internal Tandem Duplication Detection in Acute Myeloid Leukemia.

Oduro KA et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2024

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

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

Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Umeda M et al.

Blood Cancer Discovery, 2022

35176137 (PubMed )
Supplement: bcd-21-0160_supplemental_tables_supp1-32.xlsx › Table_S18_SNV-RNA

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.

Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Bruscaggin A et al.

Blood Advances, 2021

34500472 (PubMed )
Supplement: advancesADV2021004528-suppl2.xlsx › Table_S7

Targeted genomic investigations in a population-based cohort of mantle cell lymphoma reveal novel clinically relevant targets.

Rodrigues JM et al.

Leukemia & Lymphoma, 2021

34080947 (PubMed )
Supplement: supplement_1.xlsx › Table_S6._Predicted_drivers

Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Lang GT et al.

Nature Communications, 2020

33173047 (PubMed )
Supplement: 41467_2020_19342_MOESM7_ESM.xlsx › PGI_fudan_NC_clnical.oc

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

Dalton WB et al.

Blood Advances, 2020

Genomic Profiling of Metastatic Uveal Melanoma and Clinical Results of a Phase I Study of the Protein Kinase C Inhibitor AEB071.

Piperno-Neumann S et al.

Molecular Cancer Therapeutics, 2020

Spliceosomal disruption of the non-canonical BAF complex in cancer.

Inoue D et al.

Nature, 2019

Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Nadeu F et al.

Leukemia, 2018

28924241 (PubMed )
Supplement: leu2017291x4.xlsx › Table_S7

Single-Nucleotide Polymorphism Leading to False Allelic Fraction by Droplet Digital PCR.

Christenson ES et al.

Clinical Chemistry, 2017

Personalized Medicine in the Oncology Clinic: Implementation and Outcomes of the Johns Hopkins Molecular Tumor Board.

Dalton WB et al.

Jco Precision Oncology, 2017

Transcriptomic Characterization of SF3B1 Mutation Reveals Its Pleiotropic Effects in Chronic Lymphocytic Leukemia.

Wang L et al.

Cancer Cell, 2016

RNA splicing factors as oncoproteins and tumour suppressors.

Dvinge H et al.

Nature Reviews. Cancer, 2016

SF3B1 mutations in chronic lymphocytic leukemia.

Wan Y et al.

Blood, 2013

Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.

Quesada V et al.

Nature Genetics, 2011

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.

Malcovati L et al.

Blood, 2011

Splicing factor mutations and cancer.

Yoshida K et al.

Wiley Interdisciplinary Reviews. Rna, 0

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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."