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|Protein Effect||no effect - predicted|
|Gene Variant Descriptions||SF3B1 G742D does not lie within any known functional domains of the Sf3b1 protein (UniProt.org). G742D demonstrates similar effects on erythoid differentiation in cell culture as wild-type Sf3b1 (Cancer Res August 1, 2015 75; 2040) and therefore, is predicted to have to effect of Sf3b1 protein function.|
|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 G742D||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 4 cell lines harboring SF3B1 G742D (PMID: 26068951).||26068951|
|Molecular Profile||Protein Effect||Treatment Approaches|
|SF3B1 G742D||no effect - predicted|