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| Gene | CBL |
| Variant | Y368C |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | CBL Y368C lies within the linker region of the Cbl protein (UniProt.org). Y368C results in a loss of Cbl E3 ubiquitin ligase activity, is transforming in cell culture, and promotes tumor formation in animal models (PMID: 19620960). |
| Associated Drug Resistance | |
| Category Variants Paths |
CBL mutant CBL exon8 CBL Y368C CBL mutant CBL inact mut CBL Y368C |
| Transcript | NM_005188.4 |
| gDNA | chr11:g.119278173A>G |
| cDNA | c.1103A>G |
| Protein | p.Y368C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005188.4 | chr11:g.119278173A>G | c.1103A>G | p.Y368C | RefSeq | GRCh38/hg38 |
| XM_011543057 | chr11:g.119278173A>G | c.1103A>G | p.Y368C | RefSeq | GRCh38/hg38 |
| NM_005188.3 | chr11:g.119278173A>G | c.1103A>G | p.Y368C | RefSeq | GRCh38/hg38 |
| NM_005188 | chr11:g.119278173A>G | c.1103A>G | p.Y368C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|