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 | A848V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL A848V lies within the CD2AP-interacting region of the Cbl protein (UniProt.org). A848V has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Dec 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL A848V |
Transcript | NM_005188.4 |
gDNA | chr11:g.119299603C>T |
cDNA | c.2543C>T |
Protein | p.A848V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119299603C>T | c.2543C>T | p.A848V | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119299603C>T | c.2543C>T | p.A848V | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119299603C>T | c.2543C>T | p.A848V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|