Gene Variant Detail

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Gene CBL
Variant K382E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CBL K382E lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). K382E confers a loss of function to Cbl as demonstrated by lack of Cbl activity (PMID: 26676746), impaired internalization, ubiquitination, and degradation of Egfr, and decreased inhibition of Erk1/2 phosphorylation in culture (PMID: 25178484).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL K382E

CBL mutant CBL inact mut CBL K382E

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Transcript NM_005188.4
gDNA chr11:g.119278214A>G
cDNA c.1144A>G
Protein p.K382E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.4 chr11:g.119278214A>G c.1144A>G p.K382E RefSeq GRCh38/hg38
NM_005188 chr11:g.119278214A>G c.1144A>G p.K382E RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278214A>G c.1144A>G p.K382E RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278214A>G c.1144A>G p.K382E 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
CBL K382E loss of function FLT3 Inhibitor