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| Gene | CBL |
| Variant | C401F |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | CBL C401F lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C401F results in increased Erk phosphorylation compared to wild-type Cbl in culture (PMID: 38613168), and therefore, is predicted to lead to a loss of Cbl protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
CBL mutant CBL exon8 CBL C401F CBL mutant CBL inact mut CBL C401F |
| Transcript | NM_005188.4 |
| gDNA | chr11:g.119278272G>T |
| cDNA | c.1202G>T |
| Protein | p.C401F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |