Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.K741Q
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SF3B1

NM_012433.4:p.K741Q

Associated Papers

De novo variants in the splicing factor gene SF3B1 are associated with neurodevelopmental disorders.

Uguen K et al.

Nature Communications, 2026

Utilizing Patient-Derived Xenografts to Model Precision Oncology for Biliary Tract Cancer.

DiPeri TP et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

39513959 (PubMed )
Supplement: ccr-24-1233_supplementary_tables_1_-_8_suppts1.xlsx › Table_S4

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

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

Choi IY et al.

Research Square, 2023

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

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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."