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| Gene | CBL |
| Variant | S376F |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | CBL S376F lies within the linker region of the Cbl protein (UniProt.org). S376F leads to decreased Cbl ubiquitin ligase activity, increased cell survival, and is transforming in cell culture (PMID: 19387008). |
| Associated Drug Resistance | |
| Category Variants Paths |
CBL mutant CBL exon8 CBL S376F CBL mutant CBL inact mut CBL S376F |
| Transcript | NM_005188.4 |
| gDNA | chr11:g.119278197C>T |
| cDNA | c.1127C>T |
| Protein | p.S376F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005188.3 | chr11:g.119278197C>T | c.1127C>T | p.S376F | RefSeq | GRCh38/hg38 |
| XM_011543057 | chr11:g.119278197C>T | c.1127C>T | p.S376F | RefSeq | GRCh38/hg38 |
| NM_005188 | chr11:g.119278197C>T | c.1127C>T | p.S376F | RefSeq | GRCh38/hg38 |
| NM_005188.4 | chr11:g.119278197C>T | c.1127C>T | p.S376F | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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