Gene Variant Detail

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Gene CBL
Variant D460del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions CBL D460del results in the deletion of an amino acid of the Cbl protein at amino acid 460 (UniProt.org). D460del has been identified in sequencing studies (PMID: 28098136, PMID: 25186949, PMID: 24817963), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2023).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon9 CBL D460del

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Transcript NM_005188.4
gDNA chr11:g.119278662_119278664delTGA
cDNA c.1380_1382delTGA
Protein p.D460delD
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.4 chr11:g.119278662_119278664delTGA c.1380_1382delTGA p.D460delD RefSeq GRCh38/hg38
NM_005188 chr11:g.119278662_119278664delTGA c.1380_1382delTGA p.D460del RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278662_119278664delTGA c.1380_1382delTGA p.D460del RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278662_119278664delTGA c.1380_1382delTGA p.D460del 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