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Gene | CBL |
Variant | Q875* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL Q875* results in a premature truncation of the Cbl protein at amino acid 875 of 906 (UniProt.org). Q875* has been identified in sequencing studies (PMID: 26214590), 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 Q875* |
Transcript | NM_005188.4 |
gDNA | chr11:g.119299683C>T |
cDNA | c.2623C>T |
Protein | p.Q875* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188 | chr11:g.119299683C>T | c.2623C>T | p.Q875* | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119299683C>T | c.2623C>T | p.Q875* | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119299683C>T | c.2623C>T | p.Q875* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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