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Gene | CBL |
Variant | Y92A |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | CBL Y92A lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). Y92A does not impair E3 ubiquitin ligase activity and demonstrates similar levels of Egfr ubiquitination compared to wild-type Cbl in cell culture (PMID: 10635327), and therefore, is predicted to have no effect on Cbl protein function. |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL Y92A |
Transcript | NM_005188.4 |
gDNA | chr11:g.119232526_119232527delTAinsGC |
cDNA | c.274_275delTAinsGC |
Protein | p.Y92A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |