Varaico: Literature-Extracted Genetic Variants

Gene:SF3B1
Variant:p.E783K
Back to variants list

SF3B1

NM_012433.4:p.E783K

Associated Papers

Mutations in the splicing factor SF3B1 are linked to frequent emergence of HLA-DRlow/neg monocytes in lower-risk myelodysplastic neoplasms.

Winter S et al.

Leukemia, 2024

38632316 (PubMed )
Supplement: 41375_2024_2249_MOESM1_ESM.pdf

Next-generation sequencing of uveal melanoma with clinical and histological correlations: Prognostic value of new mutations in the PI3K/AKT/mTOR pathway.

Pérez-Pérez M et al.

Clinical & Experimental Ophthalmology, 2023

Concurrent Mutations in SF3B1 and PHF6 in Myeloid Neoplasms.

Zuo Z et al.

Biology, 2022

Targeting the EIF2AK1 Signaling Pathway Rescues Red Blood Cell Production in SF3B1-Mutant Myelodysplastic Syndromes With Ringed Sideroblasts.

Adema V et al.

Blood Cancer Discovery, 2022

35926182 (PubMed )
Supplement: bcd-21-0220_supplementary_tables_suppst1-st11.xlsx › Table_S1

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

Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Zhan Q et al.

Ebiomedicine, 2021

34839264 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Only SF3B1 mutation involving K700E independently predicts overall survival in myelodysplastic syndromes.

Kanagal-Shamanna R et al.

Cancer, 2021

Spliceosome Mutations in Uveal Melanoma.

Nguyen JQN et al.

International Journal of Molecular Sciences, 2020

Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Nadeu F et al.

Leukemia, 2018

28924241 (PubMed )
Supplement: leu2017291x4.xlsx › Table_S7

Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.

Martin M et al.

Nature Genetics, 2013

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."