Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.I704F
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SF3B1

NM_012433.4:p.I704F

Associated Papers

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

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

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

Targeting the MDM2-p53 Interaction with Siremadlin: A Promising Therapeutic Strategy for Treating TP53 Wild-Type Chronic Lymphocytic Leukemia.

Aptullahoglu E et al.

Cancers, 2025

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

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

Pacholewska A et al.

Genome Research, 2024

39271291 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › IsoSeq

SF3B1 Mutations Are Associated with Resistance to Non-Genotoxic MDM2 Inhibition in Chronic Lymphocytic Leukemia.

Aptullahoglu E et al.

International Journal of Molecular Sciences, 2023

Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage.

Mancikova V et al.

Molecular Oncology, 2023

36334078 (PubMed )
Supplement: MOL2-17-82-s003.pdf

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Adema V et al.

Ebiomedicine, 2022

35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3

SF3B1-mutated chronic lymphocytic leukemia shows evidence of NOTCH1 pathway activation including CD20 downregulation

Pozzo F et al.

Haematologica, 2021

33121237 (PubMed )
Supplement: 2020_261891_POZZO_SUPPL.pdf

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

Invariant patterns of clonal succession determine specific clinical features of myelodysplastic syndromes.

Nagata Y et al.

Nature Communications, 2019

31772163 (PubMed )
Supplement: 41467_2019_13001_MOESM4_ESM.xlsx › SuppData2_AllVariantswithClone

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

Next-generation sequencing and FISH studies reveal the appearance of gene mutations and chromosomal abnormalities in hematopoietic progenitors in chronic lymphocytic leukemia.

Quijada-Álamo M et al.

Journal of Hematology & Oncology, 2017

RNA splicing factors as oncoproteins and tumour suppressors.

Dvinge H et al.

Nature Reviews. Cancer, 2016

Mutations driving CLL and their evolution in progression and relapse.

Landau DA et al.

Nature, 2015

26466571 (PubMed )
Supplement: NIHMS715090-supplement-Supplementary_Table_3.xlsx › mutation_annotation_file_538_co

Acquired initiating mutations in early hematopoietic cells of CLL patients.

Damm F et al.

Cancer Discovery, 2014

24920063 (PubMed )
Supplement: 21598290cd140104-sup-tab1.xls › CLL19

Genetic lesions associated with chronic lymphocytic leukemia transformation to Richter syndrome.

Fabbri G et al.

The Journal of Experimental Medicine, 2013

24127483 (PubMed )
Supplement: supp_jem.20131448_JEM_20131448_TableS1.xlsx › Table_S1

Next-generation sequencing in chronic lymphocytic leukemia.

Villamor N et al.

Seminars in Hematology, 2013

Recurrent gene mutations in CLL.

Martínez-Trillos A et al.

Advances in Experimental Medicine and Biology, 2013

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