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Gene | FBXW7 |
Variant | S546L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FBXW7 S546L lies within WD repeat 5 of the Fbxw7 protein (UniProt.org). S546L has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Apr 2025). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 S546L |
Transcript | NM_033632.3 |
gDNA | chr4:g.152326013G>A |
cDNA | c.1637C>T |
Protein | p.S546L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |