CBL M487V - Gene Variant Detail

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Gene CBL
Variant M487V
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CBL M487V lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). M487V confers a loss of function to the Cbl protein as demonstrated by decreased Egfr ubiquitination and increased phosphorylation of Erk upon Egf stimulation in cultured cells (PMID: 36495474).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL inact mut CBL M487V

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Transcript NM_005188.4
gDNA chr11:g.119284996A>G
cDNA c.1459A>G
Protein p.M487V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017018511 chr11:g.119285564A>G c.1459A>G p.M487V RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119284996A>G c.1459A>G p.M487V RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119284996A>G c.1459A>G p.M487V RefSeq GRCh38/hg38
NM_005188 chr11:g.119284996A>G c.1459A>G p.M487V 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References