Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.R590K
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SF3B1

NM_012433.4:p.R590K

Associated Papers

DNA Methylation Array Analysis Identifies Biological Subgroups of Cutaneous Melanoma and Reveals Extensive Differences with Benign Melanocytic Nevi.

Schwendinger S et al.

Diagnostics (basel, Switzerland), 2025

40075779 (PubMed )
Supplement: diagnostics-15-00531-s001.zip › Supplementary_Data.xlsx › Mutations

RUNX1 mutations contribute to the progression of MDS due to disruption of antitumor cellular defense: a study on patients with lower-risk MDS.

Kaisrlikova M et al.

Leukemia, 2022

35505182 (PubMed )
Supplement: 41375_2022_1584_MOESM2_ESM.xlsx › Mutations_214_LR-MDS

The longitudinal dynamics and natural history of clonal haematopoiesis.

Fabre MA et al.

Nature, 2022

35650444 (PubMed )
Supplement: 41586_2022_4785_MOESM12_ESM.xlsx › MDS

Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.

Malcovati L et al.

Blood, 2011

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

Papaemmanuil E et al.

The New England Journal of Medicine, 2011

Splicing factor mutations and cancer.

Yoshida K et al.

Wiley Interdisciplinary Reviews. Rna, 0

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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."