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| Gene | CBL |
| Variant | K477M |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CBL K477M lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). K477M has been identified in sequencing studies (PMID: 22980975), 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 exon9 CBL K477M |
| Transcript | NM_005188.4 |
| gDNA | chr11:g.119278712A>T |
| cDNA | c.1430A>T |
| Protein | p.K477M |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |