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| Gene | CBL |
| Variant | C381Y |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CBL C381Y lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C381Y has been identified in sequencing studies (PMID: 25426837, PMID: 19387008, PMID: 33375775), 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 C381Y |
| Transcript | NM_005188.4 |
| gDNA | chr11:g.119278212G>A |
| cDNA | c.1142G>A |
| Protein | p.C381Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |