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 | E143D |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CBL E143D lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). E143D has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, May 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
CBL mutant CBL E143D |
| Transcript | NM_005188.4 |
| gDNA | chr11:g.119232681G>C |
| cDNA | c.429G>C |
| Protein | p.E143D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |