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Gene | FBXW7 |
Variant | S562L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FBXW7 S562L lies within WD repeat 5 of the Fbxw7 protein (UniProt.org). S562L demonstrates tumor growth similar to wild-type Fbxw7 in a mouse model (PMID: 24838835), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 S562L |
Transcript | NM_033632.3 |
gDNA | chr4:g.152324354G>A |
cDNA | c.1685C>T |
Protein | p.S562L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |