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Gene | CBL |
Variant | Y371del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL Y371del results in the deletion of one amino acid in the linker region of the Cbl protein at amino acid 371 (UniProt.org). Y371del confers a loss of function to the Cbl protein as indicated by failure to regulate phosphorylation, demonstrating increased phosphorylation of intracellular proteins in cell culture (PMID: 9671395), decreased apoptosis, increased cell cycle progression, and transformation of cultured cells in the presence of FLT3 (PMID: 20622007, PMID: 31943762). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL Y371del CBL mutant CBL inact mut CBL Y371del |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278182_119278184delACT |
cDNA | c.1112_1114delACT |
Protein | p.Y371delY |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119278182_119278184delACT | c.1112_1114delACT | p.Y371del | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278182_119278184delACT | c.1112_1114delACT | p.Y371del | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278182_119278184delACT | c.1112_1114delACT | p.Y371delY | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278182_119278184delACT | c.1112_1114delACT | p.Y371del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CBL Y371del FLT3 pos | hematologic cancer | sensitive | Quizartinib | Preclinical - Cell culture | Actionable | In a preclinical study, Vanflyta (quizartinib) inhibited proliferation of cells expressing wild-type FLT3 and CBL Y371del in culture (PMID: 31943762). | 31943762 |
CBL Y371del FLT3 pos | hematologic cancer | sensitive | Sorafenib | Preclinical - Cell culture | Actionable | In a preclinical study, Nexavar (sorafenib) inhibited proliferation of cells expressing wild-type FLT3 and CBL Y371del in culture (PMID: 31943762). | 31943762 |
CBL Y371del FLT3 pos | hematologic cancer | sensitive | Gilteritinib | Preclinical - Cell culture | Actionable | In a preclinical study, Xospata (gilteritinib) inhibited proliferation of cells expressing wild-type FLT3 and CBL Y371del in culture (PMID: 31943762). | 31943762 |
CBL Y371del FLT3 pos | hematologic cancer | sensitive | Crenolanib | Preclinical - Cell culture | Actionable | In a preclinical study, Crenolanib inhibited proliferation of cells expressing wild-type FLT3 and CBL Y371del in culture (PMID: 31943762). | 31943762 |
CBL Y371del FLT3 pos | hematologic cancer | sensitive | Midostaurin | Preclinical - Cell culture | Actionable | In a preclinical study, Rydapt (midostaurin) inhibited proliferation of cells expressing wild-type FLT3 and CBL Y371del in culture (PMID: 31943762). | 31943762 |
CBL Y371del FLT3 pos | hematologic cancer | sensitive | Midostaurin + PRT062607 | Preclinical - Cell culture | Actionable | In a preclinical study, the addition of PRT062607 to treatment with Rydapt (midostaurin) resulted in enhanced inhibition of proliferation of cells expressing wild-type FLT3 and CBL Y371del in culture (PMID: 31943762). | 31943762 |