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CBL C381A - Gene Variant Detail

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Gene CBL
Variant C381A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CBL C381A lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). C381A results in cell differentiation, cell cycle arrest, Erk phosphorylation, p38 association, and Cd38 expression and binding similar to wild-type Cbl in one study (PMID: 19635790), but results in loss of Cbl activity (PMID: 26676746), loss of ubiquitination and Ubc4 activation (PMID: 10514377), 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 C381A

CBL mutant CBL inact mut CBL C381A

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Transcript NM_005188.4
gDNA chr11:g.119278211_119278212delTGinsGC
cDNA c.1141_1142delTGinsGC
Protein p.C381A
Source Database RefSeq
Genome Build GRCh38/hg38

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