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Gene | CBL |
Variant | L878F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | CBL L878F lies within the UBA domain of the Cbl protein (UniProt.org). L878F has been identified in sequencing studies (PMID: 30082870), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, May 2025). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL L878F |
Transcript | NM_005188.4 |
gDNA | chr11:g.119299694G>T |
cDNA | c.2634G>T |
Protein | p.L878F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |