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| Gene | CBL |
| Variant | W802* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | CBL W802* results in a premature truncation of the Cbl protein at amino acid 802 of 906 (UniProt.org). W802* has not been characterized however, due to the effects of other truncation mutations downstream of W802 (PMID: 23744067), is predicted to lead to a loss of Cbl protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
CBL mutant CBL inact mut CBL W802* |
| Transcript | NM_005188.4 |
| gDNA | chr11:g.119298511G>A |
| cDNA | c.2405G>A |
| Protein | p.W802* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005188.3 | chr11:g.119298511G>A | c.2405G>A | p.W802* | RefSeq | GRCh38/hg38 |
| NM_005188 | chr11:g.119298511G>A | c.2405G>A | p.W802* | RefSeq | GRCh38/hg38 |
| NM_005188.4 | chr11:g.119298511G>A | c.2405G>A | p.W802* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|