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| Gene | CBL |
| Variant | Q875* |
| Impact List | nonsense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CBL Q875* results in a premature truncation of the Cbl protein at amino acid 875 of 906 (UniProt.org). Q875* has been identified in sequencing studies (PMID: 26214590), 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 Q875* |
| Transcript | NM_005188.4 |
| gDNA | chr11:g.119299683C>T |
| cDNA | c.2623C>T |
| Protein | p.Q875* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |