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Gene CBL
Variant V478L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CBL V478L does not lie within any known functional domains of the Cbl protein (UniProt.org). V478L has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2023).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL V478L

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Transcript NM_005188.3
gDNA chr11:g.119284969G>C
cDNA c.1432G>C
Protein p.V478L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188 chr11:g.119284969G>C c.1432G>C p.V478L RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119284969G>C c.1432G>C p.V478L 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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  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References