CBL G375P
Gene Variant Detail

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Gene CBL
Variant G375P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CBL G375P lies within the linker region of the Cbl protein (UniProt.org). G375P is predicted to confer a loss of function to the Cbl protein, as demonstrated by reduced Cbl activity in culture (PMID: 26676746).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL G375P

CBL mutant CBL inact mut CBL G375P

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Transcript NM_005188.4
gDNA chr11:g.119278193_119278194delGGinsCC
cDNA c.1123_1124delGGinsCC
Protein p.G375P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.4 chr11:g.119278193_119278194delGGinsCC c.1123_1124delGGinsCC p.G375P RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278193_119278194delGGinsCC c.1123_1124delGGinsCC p.G375P RefSeq GRCh38/hg38
NM_005188 chr11:g.119278193_119278194delGGinsCC c.1123_1124delGGinsCC p.G375P RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278193_119278194delGGinsCC c.1123_1124delGGinsCC p.G375P RefSeq 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")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References