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Gene | CBL |
Variant | Y455_D456del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | CBL Y455_D456del results in the deletion of two amino acids of the Cbl protein from amino acids 455 to 456 (UniProt.org). Y455_D456del has been identified in sequencing studies (PMID: 25017477), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL exon9 CBL Y455_D456del |
Transcript | NM_005188.4 |
gDNA | chr11:g.119278645_119278650delTATGAT |
cDNA | c.1363_1368delTATGAT |
Protein | p.Y455_D456delYD |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |