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Gene | CBL |
Variant | K382E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL K382E lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). K382E confers a loss of function to Cbl as demonstrated by lack of Cbl activity (PMID: 26676746), impaired internalization, ubiquitination, and degradation of Egfr, and decreased inhibition of Erk1/2 phosphorylation in culture (PMID: 25178484). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL K382E CBL mutant CBL inact mut CBL K382E |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278214A>G |
cDNA | c.1144A>G |
Protein | p.K382E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119278214A>G | c.1144A>G | p.K382E | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278214A>G | c.1144A>G | p.K382E | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278214A>G | c.1144A>G | p.K382E | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278214A>G | c.1144A>G | p.K382E | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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