Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.K741E
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SF3B1

NM_012433.4:p.K741E

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

The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia.

Hägerstrand D et al.

Leukemia, 2024

39261602 (PubMed )
Supplement: 41375_2024_2379_MOESM1_ESM.pdf

Structural insights into branch site proofreading by human spliceosome.

Zhang X et al.

Nature Structural & Molecular Biology, 2024

SF3B1 mutation-mediated sensitization to H3B-8800 splicing inhibitor in chronic lymphocytic leukemia.

López-Oreja I et al.

Life Science Alliance, 2023

37562845 (PubMed )
Supplement: LSA-2023-01955_TableS1.xlsx › Hoja1

RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.

Kaisrlikova M et al.

Leukemia, 2022

35505182 (PubMed )
Supplement: 41375_2022_1584_MOESM2_ESM.xlsx › Mutations_214_LR-MDS

A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Hoyer K et al.

Ebiomedicine, 2021

33862582 (PubMed )
Supplement: mmc3.xlsx › S5

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

Alsafadi S et al.

Oncogene, 2021

33057152 (PubMed )
Supplement: NIHMS1634320-supplement-2.pdf

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

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots
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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."