Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.R625P
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SF3B1

NM_012433.4:p.R625P

Associated Papers

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

Spliceosome Mutations in Uveal Melanoma.

Nguyen JQN et al.

International Journal of Molecular Sciences, 2020

Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Brown AL et al.

Plos Computational Biology, 2019

31034466 (PubMed )
Supplement: pcbi.1006981.s010.xlsx › final_benchmark

SF3B1 mutations are associated with alternative splicing in uveal melanoma.

Furney SJ et al.

Cancer Discovery, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

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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