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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 |
Transcript | NM_005188.3 |
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 | 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_005188.3 | chr11:g.119278197C>T | c.1127C>T | p.S376F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL S376F | loss of function | FLT3 Inhibitor |