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Gene | CBL |
Variant | del exon9 |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL del exon9 is a CBL splice variant caused by a mutation resulting in the deletion of exon 9 (PMID: 19276253). Del exon9 demonstrates increased ubiquitination and reduced protein stability of Cbl, and failure to suppress Erk phosphorylation in cell culture (PMID: 26152360). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon9 CBL del exon9 CBL mutant CBL inact mut CBL del exon9 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL del exon9 | loss of function |