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Gene CBL
Variant S376F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CBL S376F lies within the linker region of the Cbl protein (UniProt.org). S376F leads to decreased Cbl ubiquitin ligase activity, increased cell survival, and is transforming in cell culture (PMID: 19387008).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL inact mut CBL S376F

CBL mutant CBL exon8 CBL S376F

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Transcript NM_005188.3
gDNA chr11:g.119278197C>T
cDNA c.1127C>T
Protein p.S376F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188 chr11:g.119278197C>T c.1127C>T p.S376F RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278197C>T c.1127C>T p.S376F RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278197C>T c.1127C>T p.S376F 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References