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Gene | CBL |
Variant | C416W |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL C416W lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C416W results in increased cell proliferation compared to wild-type Cbl in cells overexpressing wild-type FLT3 (PMID: 22315494), but has not been individually characterized and therefore, its effect on Cbl protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon9 CBL C416W |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278530T>G |
cDNA | c.1248T>G |
Protein | p.C416W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119278530T>G | c.1248T>G | p.C416W | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278530T>G | c.1248T>G | p.C416W | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278530T>G | c.1248T>G | p.C416W | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278530T>G | c.1248T>G | p.C416W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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