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 | A186V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | CBL A186V lies within the Cbl-PTB domain of the Cbl protein (UniProt.org). A186V has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
CBL mutant CBL A186V |
| Transcript | NM_005188.4 |
| gDNA | chr11:g.119271848C>T |
| cDNA | c.557C>T |
| Protein | p.A186V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011543057 | chr11:g.119271848C>T | c.557C>T | p.A186V | RefSeq | GRCh38/hg38 |
| NM_005188.3 | chr11:g.119271848C>T | c.557C>T | p.A186V | RefSeq | GRCh38/hg38 |
| NM_005188 | chr11:g.119271848C>T | c.557C>T | p.A186V | RefSeq | GRCh38/hg38 |
| NM_005188.4 | chr11:g.119271848C>T | c.557C>T | p.A186V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| CBL A186V | unknown |