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Gene | FBXW7 |
Variant | D550Mfs*6 |
Impact List | frameshift |
Protein Effect | unknown |
Gene Variant Descriptions | FBXW7 D550Mfs*6 indicates a shift in the reading frame starting at amino acid 550 and terminating 6 residues downstream causing a premature truncation of the 707 amino acid Fbxw7 protein (UniProt.org). D550Mfs*6 has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Feb 2025). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 D550Mfs*6 |
Transcript | NM_033632.3 |
gDNA | chr4:g.152324391delC |
cDNA | c.1648delG |
Protein | p.D550Mfs*6 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |