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Gene CBL
Variant L857*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions CBL L857* results in a premature truncation of the Cbl protein at amino acid 857 of 906 (UniProt.org). L857* results in a loss of Cbl protein function as demonstrated by reduced Cbl dimerization, lack of nuclear translocation, and failure to ubiquitinate beta-catenin in cell culture (PMID: 23744067).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL inact mut CBL L857*

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Transcript NM_005188.4
gDNA chr11:g.119299629_119299631delCTCinsTAA
cDNA c.2569_2571delCTCinsTAA
Protein p.L857*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.3 chr11:g.119299629_119299631delCTCinsTAA c.2569_2571delCTCinsTAA p.L857* RefSeq GRCh38/hg38
NM_005188 chr11:g.119299629_119299631delCTCinsTAA c.2569_2571delCTCinsTAA p.L857* RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119299629_119299631delCTCinsTAA c.2569_2571delCTCinsTAA p.L857* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Protein Effect Treatment Approaches
CBL L857* loss of function