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CBL K382E - Gene Variant Detail

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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

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Transcript NM_005188.4
gDNA chr11:g.119278214A>G
cDNA c.1144A>G
Protein p.K382E
Source Database RefSeq
Genome Build GRCh38/hg38

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