Gene Variant Detail

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Gene CBL
Variant Y368F
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions CBL Y368F lies within the linker region of the Cbl protein (UniProt.org). Y368F does not impair E3 ubiquitin ligase activity and demonstrates similar levels of Egfr ubiquitination (PMID: 10635327) and Pdgfr polyubiquitination compared to wild-type Cbl in cell culture (PMID: 11239464), is not transforming in culture (PMID: 11239464) and therefore, is predicted to have no effect on Cbl protein function.
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL Y368F

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Transcript NM_005188.4
gDNA chr11:g.119278173A>T
cDNA c.1103A>T
Protein p.Y368F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188 chr11:g.119278173A>T c.1103A>T p.Y368F RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278173A>T c.1103A>T p.Y368F RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278173A>T c.1103A>T p.Y368F RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278173A>T c.1103A>T p.Y368F RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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