Gene Variant Detail

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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

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Transcript NM_005188.4
gDNA chr11:g.119278166_119278216del51
cDNA c.1096_1146del51
Protein p.E366_K382del17
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.4 chr11:g.119278166_119278216del51 c.1096_1146del51 p.E366_K382del17 RefSeq GRCh38/hg38
NM_005188 chr11:g.119278166_119278216del51 c.1096_1146del51 p.E366_K382del RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278166_119278216del51 c.1096_1146del51 p.E366_K382del RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278166_119278216del51 c.1096_1146del51 p.E366_K382del RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References