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