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Gene | CBL |
Variant | Q367P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL Q367P lies within the linker domain of the Cbl protein (PMID: 19620960). Q367P 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 Q367P CBL mutant CBL inact mut CBL Q367P |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278170A>C |
cDNA | c.1100A>C |
Protein | p.Q367P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119278170A>C | c.1100A>C | p.Q367P | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278170A>C | c.1100A>C | p.Q367P | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278170A>C | c.1100A>C | p.Q367P | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278170A>C | c.1100A>C | p.Q367P | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL Q367P | loss of function | FLT3 Inhibitor |