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Gene | CBL |
Variant | E366_K382del |
Impact List | deletion |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL E366_K382del (also known as 70Z-Cbl or 70Z del) results in the deletion of 17 amino acids in the Cbl protein from aa 366 to 382 (UniProt.org). E366_K382del confers a loss of function to the Cbl protein as demonstrated by loss of E3 ubiquitin-protein ligase activity and oncogenic transformation in cultured cells (PMID: 7925293, PMID: 11239464). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL E366_K382del CBL mutant CBL inact mut CBL E366_K382del |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278166_119278216del51 |
cDNA | c.1096_1146del51 |
Protein | p.E366_K382del17 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |