Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.R625S
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SF3B1

NM_012433.4:p.R625S

Associated Papers

Molecular determinants of survival in metastatic uveal melanoma: The impact of SF3B1 mutations.

Del Carpio LP et al.

European Journal of Cancer (oxford, England : 1990), 2025

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

Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Adema V et al.

Ebiomedicine, 2022

35617825 (PubMed )
Supplement: mmc3.xlsx › Suppl_Table_3

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

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 › UM_BNLM_PLMT

Splicing Patterns in SF3B1-Mutated Uveal Melanoma Generate Shared Immunogenic Tumor-Specific Neoepitopes.

Bigot J et al.

Cancer Discovery, 2021

Spliceosome Mutations in Uveal Melanoma.

Nguyen JQN et al.

International Journal of Molecular Sciences, 2020

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

Dalton WB et al.

Blood Advances, 2020

SF3B1, NRAS, KIT, and BRAF Mutation; CD117 and cMYC Expression; and Tumoral Pigmentation in Sinonasal Melanomas: An Analysis With Newly Found Molecular Alterations and Some Population-Based Molecular Differences.

Wroblewska JP et al.

The American Journal of Surgical Pathology, 2019

Whole-exome sequencing identifies recurrent SF3B1 R625 mutation and comutation of NF1 and KIT in mucosal melanoma.

Hintzsche JD et al.

Melanoma Research, 2017

Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.

Papaemmanuil E et al.

The New England Journal of Medicine, 2011

AlphaMissense Predictions and ClinVar Annotations: A Deep Learning Approach to Uveal Melanoma.

Taylor Gonzalez DJ et al.

Ophthalmology Science, 0

40114711 (PubMed )
Supplement: mmc1.docx
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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."