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@jax.org
Gene | CBL |
Variant | L399V |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | CBL L399V lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). L399V is predicted to confer a loss of function to the Cbl protein, as demonstrated by reduced Cbl activity in culture (PMID: 26676746). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL L399V CBL mutant CBL inact mut CBL L399V |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278265C>G |
cDNA | c.1195C>G |
Protein | p.L399V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119278265C>G | c.1195C>G | p.L399V | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278265C>G | c.1195C>G | p.L399V | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278265C>G | c.1195C>G | p.L399V | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278265C>G | c.1195C>G | p.L399V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|