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Gene | CBL |
Variant | Y368_K382del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | CBL Y368_K382del results in the deletion of 15 amino acids within the linker region of the Cbl protein from amino acids 368 to 382 (UniProt.org). Y368_K382del has not been characterized in the scientific literature and therefore, its effect on Cbl protein function is unknown (PubMed, Sep 2024). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon8 CBL Y368_K382del |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278172_119278216del45 |
cDNA | c.1102_1146del45 |
Protein | p.Y368_K382del15 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005188.4 | chr11:g.119278172_119278216del45 | c.1102_1146del45 | p.Y368_K382del15 | RefSeq | GRCh38/hg38 |
NM_005188 | chr11:g.119278172_119278216del45 | c.1102_1146del45 | p.Y368_K382del15 | RefSeq | GRCh38/hg38 |
XM_011543057 | chr11:g.119278172_119278216del45 | c.1102_1146del45 | p.Y368_K382del15 | RefSeq | GRCh38/hg38 |
XM_017018511 | chr11:g.119285208_119285252del45 | c.1103_1147del45 | p.H368_L382del15 | RefSeq | GRCh38/hg38 |
NM_005188.3 | chr11:g.119278172_119278216del45 | c.1102_1146del45 | p.Y368_K382del15 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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