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|Protein Effect||loss of function - predicted|
|Gene Variant Descriptions||SF3B1 R625H lies within HEAT repeat 3 of the Sf3b1 protein (UniProt.org). R625H leads to aberrant mRNA splicing of BRD9, resulting in a loss of Brd9 protein and disruption of the localization of the non-canonical BAF complex (PMID: 31597964), and therefore, is predicted to lead to a loss 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 R625H||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 2 cell lines harboring SF3B1 R625H (PMID: 26068951).||26068951|
|Molecular Profile||Protein Effect||Treatment Approaches|
|SF3B1 R625H||loss of function - predicted|