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Gene | CBL |
Variant | C381R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CBL C381R lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C381R is predicted to disrupt Cbl stability in computer models (PMID: 26676746), and results in activation of Elk and c-Jun and decreased Notch1 signaling in cell culture (PMID: 22591685), and therefore, is predicted to lead to a loss of Cbl protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL C381R CBL mutant CBL inact mut CBL C381R |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278211T>C |
cDNA | c.1141T>C |
Protein | p.C381R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119278211T>C | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278211T>C | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278211T>C | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278211T>C | c.1141T>C | p.C381R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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