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Gene CBL
Variant K477M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CBL K477M lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). K477M has been identified in sequencing studies (PMID: 22980975), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon9 CBL K477M

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Transcript NM_005188.4
gDNA chr11:g.119278712A>T
cDNA c.1430A>T
Protein p.K477M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011543057 chr11:g.119278712A>T c.1430A>T p.K477M RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278712A>T c.1430A>T p.K477M RefSeq GRCh38/hg38
NM_005188 chr11:g.119278712A>T c.1430A>T p.K477M RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278712A>T c.1430A>T p.K477M 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

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