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Gene | CBL |
Variant | Q367_E373delinsRLK |
Impact List | indel |
Protein Effect | unknown |
Gene Variant Descriptions | CBL Q367_E373delinsRLK results in a deletion of seven amino acids in the linker region of the Cbl protein from amino acids 367 to 373, combined with the insertion of an arginine (R), a leucine (L), and a lysine (K) at the same site (UniProt.org). Q367_E373delinsRLK has been identified in the scientific literature (PMID: 31088841), but has not been biochemically characterized and therefore, its effect on CBl protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL Q367_E373delinsRLK |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278169_119278189delinsAGGCTTAAG |
cDNA | c.1099_1119delinsAGGCTTAAG |
Protein | p.Q367_E373delinsRLK |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119278169_119278189delinsAGGCTTAAG | c.1099_1119delinsAGGCTTAAG | p.Q367_E373delinsRLK | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278169_119278189delinsAGGCTTAAG | c.1099_1119delinsAGGCTTAAG | p.Q367_E373delinsRLK | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
CBL Q367_E373delinsRLK FLT3 exon 14 ins FLT3 D835X NRAS G12D | acute myeloid leukemia | predicted - resistant | Gilteritinib | Case Reports/Case Series | Actionable | In a clinical study, a patient with acute myeloid leukemia harboring FLT3-ITD and a D835 mutation progressed on Xospata (gilteritinib) treatment and was found to have acquired NRAS G12D and CBL Q367_E373delinsRLK (PMID: 31088841). | 31088841 |