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Gene | CBL |
Variant | D390V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL D390V lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). D390V has been identified in the scientific literature (PMID: 24493670), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL D390V |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278239A>T |
cDNA | c.1169A>T |
Protein | p.D390V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119278239A>T | c.1169A>T | p.D390V | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278239A>T | c.1169A>T | p.D390V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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