Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.E622V
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SF3B1

NM_012433.4:p.E622V

Associated Papers

Clinical Characteristics and Molecular Profiling of SF3B1-Mutated Myelodysplastic Syndrome (MDS) in a Real-World Practice.

Wang RR et al.

International Journal of Molecular Sciences, 2026

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

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.

Choi IY et al.

Blood Advances, 2024

38759096 (PubMed )
Supplement: BLOODA_ADV-2023-011260-mmc1.pdf

Ultra-deep mutational landscape in chronic lymphocytic leukemia uncovers dynamics of resistance to targeted therapies.

Woolston DW et al.

Haematologica, 2024

37706363 (PubMed )
Supplement: 2023_283372_WOOLSTON_SUPPL.pdf

Interaction between myelodysplasia-related gene mutations and ontogeny in acute myeloid leukemia.

McCarter JGW et al.

Blood Advances, 2023

37142255 (PubMed )
Supplement: BLOODA_ADV-2023-009675-mmc1.xlsx › supplemental_Table_2-Mutations

An improved molecular inversion probe based targeted sequencing approach for low variant allele frequency.

Biezuner T et al.

Nar Genomics and Bioinformatics, 2022

35156021 (PubMed )
Supplement: lqab125_supplemental_files.zip › Supplementary_Table_S1.xlsx › hotspots

Clonal Hematopoiesis at the Crossroads of Inflammatory Bowel Diseases and Hematological Malignancies: A Biological Link?

Cumbo C et al.

Frontiers in Oncology, 2022

Clinical, biological, and prognostic implications of SF3B1 co-occurrence mutations in very low/low- and intermediate-risk MDS patients.

Janusz K et al.

Annals of Hematology, 2021

The K666N mutation in SF3B1 is associated with increased progression of MDS and distinct RNA splicing.

Dalton WB et al.

Blood Advances, 2020

Targeted sequencing informs the evaluation of normal karyotype cytopenic patients for low-grade myelodysplastic syndrome.

Duncavage EJ et al.

Leukemia, 2016

27573557 (PubMed )
Supplement: NIHMS801589-supplement-2.xlsx › Sheet1

SF3B1 mutations in chronic lymphocytic leukemia.

Wan Y et al.

Blood, 2013

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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."