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|Gene Variant Descriptions||SF3B1 V1078I lies within HEAT repeat 9 of the Sf3b1 protein (UniProt.org). V1078I has been demonstrated to mediate resistance to splicing modulators in culture (PMID: 21981285, PMID: 28541300), 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 V1078I||colorectal cancer||resistant||E7107||Preclinical - Cell culture||Actionable||In a preclinical study, SF3B1 V1078I was identified as a recurrent mutation in colorectal cancer cells acquired resistance to E7107 in culture (PMID: 28541300).||28541300|
|Molecular Profile||Protein Effect||Treatment Approaches|