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Gene | CBL |
Variant | P428L |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CBL P428L lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). P428L demonstrates ubiquitin ligase activity towards Egfr similar to wild-type Cbl in culture (PMID: 26676746), and therefore, is predicted to have no effect on Cbl protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon9 CBL P428L |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278565C>T |
cDNA | c.1283C>T |
Protein | p.P428L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |