Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | CBL |
Variant | Y371C |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | CBL Y371C lies within the linker region of the Cbl protein (UniProt.org). Y371C results in a loss of Cbl E3 ubiquitin ligase activity, is transforming in cell culture, and promotes tumor formation in animal models (PMID: 19620960). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL Y371C CBL mutant CBL inact mut CBL Y371C |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278182A>G |
cDNA | c.1112A>G |
Protein | p.Y371C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |