Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.D781E
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SF3B1

NM_012433.4:p.D781E

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

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc6.xlsx › Sheet_1

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

Mutant SF3B1 promotes AKT- and NF-κB-driven mammary tumorigenesis.

Liu B et al.

The Journal of Clinical Investigation, 2021

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

Mutations in the RNA Splicing Factor SF3B1 Promote Tumorigenesis through MYC Stabilization.

Liu Z et al.

Cancer Discovery, 2020

SF3B1/Hsh155 HEAT motif mutations affect interaction with the spliceosomal ATPase Prp5, resulting in altered branch site selectivity in pre-mRNA splicing.

Tang Q et al.

Genes & Development, 2016

28087715 (PubMed )
Supplement: supp_30.24.2710_Supplemental_Material.pdf

Cancer-Associated SF3B1 Hotspot Mutations Induce Cryptic 3' Splice Site Selection through Use of a Different Branch Point.

Darman RB et al.

Cell Reports, 2015

SF3B1 mutations constitute a novel therapeutic target in breast cancer.

Maguire SL et al.

The Journal of Pathology, 2015

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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."