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| Gene | CBL |
| Variant | G397V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CBL G397V lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). G397V has been identified in sequencing studies (PMID: 27997717, PMID: 23010802), 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 G397V |
| Transcript | NM_005188.4 |
| gDNA | chr11:g.119278260G>T |
| cDNA | c.1190G>T |
| Protein | p.G397V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011543057 | chr11:g.119278260G>T | c.1190G>T | p.G397V | RefSeq | GRCh38/hg38 |
| NM_005188 | chr11:g.119278260G>T | c.1190G>T | p.G397V | RefSeq | GRCh38/hg38 |
| NM_005188.3 | chr11:g.119278260G>T | c.1190G>T | p.G397V | RefSeq | GRCh38/hg38 |
| NM_005188.4 | chr11:g.119278260G>T | c.1190G>T | p.G397V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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