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Gene | CBL |
Variant | Y371S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL Y371S lies within the linker domain of the Cbl protein (PMID: 19620960). Y371S results in decreased Cbl ubiquitinating activity and increased AKT activation, is transforming in cell culture, and leads to increased tumor growth in mouse models (PMID: 19620960). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL Y371S CBL mutant CBL inact mut CBL Y371S |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278182A>C |
cDNA | c.1112A>C |
Protein | p.Y371S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |