Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| 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 |
|---|---|---|---|---|---|
| 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 |
| NM_005188 | chr11:g.119278170A>C | c.1100A>C | p.Q367P | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|