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Gene | CBL |
Variant | D460del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | CBL D460del results in the deletion of an amino acid of the Cbl protein at amino acid 460 (UniProt.org). D460del has been identified in sequencing studies (PMID: 28098136, PMID: 25186949, PMID: 24817963), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon9 CBL D460del |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278662_119278664delTGA |
cDNA | c.1380_1382delTGA |
Protein | p.D460del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.3 | chr11:g.119278662_119278664delTGA | c.1380_1382delTGA | p.D460del | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278662_119278664delTGA | c.1380_1382delTGA | p.D460del | RefSeq | GRCh38/hg38 |
NM_005188.4 | chr11:g.119278662_119278664delTGA | c.1380_1382delTGA | p.D460del | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278662_119278664delTGA | c.1380_1382delTGA | p.D460del | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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