Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.N626Y
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SF3B1

NM_012433.4:p.N626Y

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-mmc6.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

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

39271291 (PubMed )
Supplement: Supplemental_Table_S1.xlsx › IsoSeq

Aberrant spliceosome activity via elevated intron retention and upregulation and phosphorylation of SF3B1 in chronic lymphocytic leukemia.

Kashyap MK et al.

Molecular Therapy. Nucleic Acids, 2024

Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Boström M et al.

Nature Communications, 2022

36396655 (PubMed )
Supplement: 41467_2022_34746_MOESM20_ESM.xlsx › Fig_2_d

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.

Prognostic Values of G-Protein Mutations in Metastatic Uveal Melanoma.

Terai M et al.

Cancers, 2021

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

Genetic alterations of SUGP1 mimic mutant-SF3B1 splice pattern in lung adenocarcinoma and other cancers.

Alsafadi S et al.

Oncogene, 2021

Functional and conformational impact of cancer-associated SF3B1 mutations depends on the position and the charge of amino acid substitution.

Canbezdi C et al.

Computational and Structural Biotechnology Journal, 2021

33777335 (PubMed )
Supplement: mmc2.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

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

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

Foy A et al.

Journal of Clinical Pathology, 2019

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark

Targeted multigene deep sequencing of Bruton tyrosine kinase inhibitor-resistant chronic lymphocytic leukemia with disease progression and Richter transformation.

Kanagal-Shamanna R et al.

Cancer, 2019

A comprehensive characterization of cis-acting splicing-associated variants in human cancer.

Shiraishi Y et al.

Genome Research, 2018

30012835 (PubMed )
Supplement: supp_gr.231951.117_Supplemental_Table_S4.xlsx › S4_SF_Mut

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

SF3B1 mutations in chronic lymphocytic leukemia.

Wan Y et al.

Blood, 2013

Subclonal evolution involving SF3B1 mutations in chronic lymphocytic leukemia.

Schwaederlé M et al.

Leukemia, 2013

Recurrent gene mutations in CLL.

Martínez-Trillos A et al.

Advances in Experimental Medicine and Biology, 2013

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

Quesada V et al.

Nature Genetics, 2011

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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."