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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, May 2025). |
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_K382del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |