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| Gene | CBL |
| Variant | C396Y |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CBL C396Y lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C396Y is predicted to disrupt Cbl stability by computational modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
CBL mutant CBL exon8 CBL C396Y |
| Transcript | NM_005188.4 |
| gDNA | chr11:g.119278257G>A |
| cDNA | c.1187G>A |
| Protein | p.C396Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |