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CBL C384G - Gene Variant Detail

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Gene CBL
Variant C384G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CBL C384G lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C384G results in a loss of Cbl E3 ubiquitin ligase activity, is transforming in cell culture, and promotes tumor formation in animal models (PMID: 19620960).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL C384G

CBL mutant CBL inact mut CBL C384G

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Transcript NM_005188.4
gDNA chr11:g.119278220T>G
cDNA c.1150T>G
Protein p.C384G
Source Database RefSeq
Genome Build GRCh38/hg38

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  • 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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