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|Gene Variant Descriptions||SF3B1 R1074H lies within HEAT repeat 9 of the Sf3b1 protein (UniProt.org). R1074H has been demonstrated to mediate resistance to splicing modulators in culture (PMID: 28541300, PMID: 21981285, PMID: 29491137), but has not been biochemically characterized and therefore, its effect on Sf3b1 protein function is unknown.|
|Associated Drug Resistance||Y|
|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 R1074H||colorectal cancer||resistant||E7107||Preclinical - Cell culture||Actionable||In a preclinical study, SF3B1 R1074H was identified as a recurrent mutation in colorectal cancer cells acquired resistance to E7107 in culture (PMID: 28541300).||28541300|
|SF3B1 R1074H||Advanced Solid Tumor||resistant||H3B-8800||Preclinical - Cell culture||Actionable||In a preclinical study, transformed cells overexpressing SF3B1 R1074H were resistant to H3B-8800 in culture (Blood 2016 128:966).||detail...|
|SF3B1 R1074H||colorectal cancer||resistant||H3B-8800||Preclinical - Cell culture||Actionable||In a preclinical study, a colorectal cancer cell line expressing SF3B1 R1074H was resistant to H3B-8800 in culture (PMID: 29457796).||29457796|
|Molecular Profile||Protein Effect||Treatment Approaches|