Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.Y765C
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SF3B1

NM_012433.4:p.Y765C

Associated Papers

Somatic mutation and selection at population scale.

Lawson ARJ et al.

Nature, 2025

41062696 (PubMed )
Supplement: 41586_2025_9584_MOESM1_ESM.pdf

Large clones of clonal hematopoiesis affect outcome in mantle cell lymphoma: results from the FIL MCL0208 clinical trial.

Ragaini S et al.

Blood Advances, 2025

39808795 (PubMed )
Supplement: BLOODA_ADV-2024-014948-mmc1.pdf

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

Whole-genome analysis identifies novel drivers and high-risk double-hit events in relapsed/refractory myeloma.

Ansari-Pour N et al.

Blood, 2023

36223594 (PubMed )
Supplement: BLOOD_BLD-2022-017010-mmc2.xlsx › Supplementary_Table_S2

Targeting pre-mRNA splicing in cancers: roles, inhibitors, and therapeutic opportunities.

Araki S et al.

Frontiers in Oncology, 2023

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.

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

Roles and mechanisms of alternative splicing in cancer - implications for care.

Bonnal SC et al.

Nature Reviews. Clinical Oncology, 2020

Therapeutic Targeting of RNA Splicing Catalysis through Inhibition of Protein Arginine Methylation.

Fong JY et al.

Cancer Cell, 2019

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

SF3B1 mutations constitute a novel therapeutic target in breast cancer.

Maguire SL et al.

The Journal of Pathology, 2015

Transcriptome sequencing reveals potential mechanism of cryptic 3' splice site selection in SF3B1-mutated cancers.

DeBoever C et al.

Plos Computational Biology, 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."