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CBL S376F - Gene Variant Detail

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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 exon8 CBL S376F

CBL mutant CBL inact mut CBL S376F

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Transcript NM_005188.4
gDNA chr11:g.119278197C>T
cDNA c.1127C>T
Protein p.S376F
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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  • 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")

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