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| Gene | CBL |
| Variant | L405P |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CBL L405P lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). L405P is predicted to disrupt Cbl stability by structural modeling (PMID: 26676746), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
CBL mutant CBL exon8 CBL L405P |
| Transcript | NM_005188.4 |
| gDNA | chr11:g.119278284T>C |
| cDNA | c.1214T>C |
| Protein | p.L405P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017018511 | chr11:g.119285318_119285319delTTinsCC | c.1213_1214delTTinsCC | p.L405P | RefSeq | GRCh38/hg38 |
| XM_011543057 | chr11:g.119278284T>C | c.1214T>C | p.L405P | RefSeq | GRCh38/hg38 |
| NM_005188 | chr11:g.119278284T>C | c.1214T>C | p.L405P | RefSeq | GRCh38/hg38 |
| NM_005188.4 | chr11:g.119278284T>C | c.1214T>C | p.L405P | RefSeq | GRCh38/hg38 |
| NM_005188.3 | chr11:g.119278284T>C | c.1214T>C | p.L405P | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| CBL L405P | unknown |