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| Gene | CBL |
| Variant | R420P |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CBL R420P lies within the RING-finger domain of the Cbl protein (PMID: 20501843). R420P leads to destabilization of Cbl-E2 binding in computational models (PMID: 26676746), but has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
CBL mutant CBL exon9 CBL R420P |
| Transcript | NM_005188.4 |
| gDNA | chr11:g.119278541G>C |
| cDNA | c.1259G>C |
| Protein | p.R420P |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005188.3 | chr11:g.119278541G>C | c.1259G>C | p.R420P | RefSeq | GRCh38/hg38 |
| NM_005188.4 | chr11:g.119278541G>C | c.1259G>C | p.R420P | RefSeq | GRCh38/hg38 |
| NM_005188 | chr11:g.119278541G>C | c.1259G>C | p.R420P | RefSeq | GRCh38/hg38 |
| XM_011543057 | chr11:g.119278541G>C | c.1259G>C | p.R420P | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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