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Gene | CBL |
Variant | C384Y |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CBL C384Y lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C384Y is predicted to disrupt Cbl E3 ligase activity, and results in increased binding of Cbl to Lyn, increased activation of Lyn and PI3K/AKT signaling, increased proliferation in Cbl-null cells, and is transforming in culture (PMID: 33512474). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL C384Y CBL mutant CBL inact mut CBL C384Y |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278221G>A |
cDNA | c.1151G>A |
Protein | p.C384Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119278221G>A | c.1151G>A | p.C384Y | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278221G>A | c.1151G>A | p.C384Y | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278221G>A | c.1151G>A | p.C384Y | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278221G>A | c.1151G>A | p.C384Y | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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