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 | F418V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CBL F418V lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). F418V has been identified in sequencing studies (PMID: 19620960), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
CBL mutant CBL exon9 CBL F418V |
| Transcript | NM_005188.4 |
| gDNA | chr11:g.119278534T>G |
| cDNA | c.1252T>G |
| Protein | p.F418V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005188 | chr11:g.119278534T>G | c.1252T>G | p.F418V | RefSeq | GRCh38/hg38 |
| XM_011543057 | chr11:g.119278534T>G | c.1252T>G | p.F418V | RefSeq | GRCh38/hg38 |
| NM_005188.3 | chr11:g.119278534T>G | c.1252T>G | p.F418V | RefSeq | GRCh38/hg38 |
| NM_005188.4 | chr11:g.119278534T>G | c.1252T>G | p.F418V | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|