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|Gene Variant Descriptions||SF3B1 E862K lies within HEAT repeat 7 of the Sf3b1 protein (UniProt.org). E862K has been identified in the scientific literature (PMID: 30530780, PMID: 31633108), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown (PubMed, Feb 2020).|
|Associated Drug Resistance|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|SF3B1 E862K||chronic lymphocytic leukemia||predicted - sensitive||Sudemycin D1||Preclinical - Patient cell culture||Actionable||In a preclinical study, Sudemycin D1 treatment resulted in increased cytotoxicity (p<0.05) in chronic lymphocytic leukemia cells derived from patients harboring mutations in SF3B1 (n=14) or other RNA splicing/processing genes (n=8) compared to cells derived from patients without mutations (n=10) in culture, including 1 cell line harboring SF3B1 E862K (PMID: 26068951).||26068951|
|Molecular Profile||Protein Effect||Treatment Approaches|