Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.H662R
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SF3B1

NM_012433.4:p.H662R

Associated Papers

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

Helicase-assisted continuous editing for programmable mutagenesis of endogenous genomes.

Chen XD et al.

Science (new York, N.y.), 2024

39388570 (PubMed )
Supplement: science.adn5876_sm.pdf

Genetics and RNA Regulation of Uveal Melanoma.

Barbagallo C et al.

Cancers, 2023

Cancer-associated mutations in SF3B1 disrupt the interaction between SF3B1 and DDX42.

Zhao B et al.

Journal of Biochemistry, 2022

Co-occurrence of BAP1 and SF3B1 mutations in uveal melanoma induces cellular senescence.

Yu L et al.

Molecular Oncology, 2022

34706158 (PubMed )
Supplement: MOL2-16-607-s006.xls › TCGA_UM_dataset

[Screening of drugs that selectively inhibit uveal melanoma cells with SF3B1 mutations].

Luo X et al.

Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 2021

Bioinformatics analysis of GNAQ, GNA11, BAP1, SF3B1,SRSF2, EIF1AX, PLCB4, and CYSLTR2 genes and their role in the pathogenesis of Uveal Melanoma.

Akin-Bali DF

Ophthalmic Genetics, 2021

Two oppositely-charged sf3b1 mutations cause defective development, impaired immune response, and aberrant selection of intronic branch sites in Drosophila.

Zhang B et al.

Plos Genetics, 2021

Characterization of the aberrant splicing of MAP3K7 induced by cancer-associated SF3B1 mutation.

Li Z et al.

Journal of Biochemistry, 2021

Paired comparisons of mutational profiles before and after brachytherapy in asian uveal melanoma patients.

Lee WS et al.

Scientific Reports, 2021

34545149 (PubMed )
Supplement: 41598_2021_98084_MOESM2_ESM.xlsx › Somatic_SNV_Primary_TCGA

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

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

Inoue D et al.

Nature, 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

Systematic genomic and translational efficiency studies of uveal melanoma.

Johnson CP et al.

Plos One, 2017

28594900 (PubMed )
Supplement: pone.0178189.s005.xls › Sheet1

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

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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."