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Gene | FBXW7 |
Variant | R479P |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | FBXW7 R479P lies within the WD repeat domain of the Fbxw7 protein (UniProt.org). R479P results in increased proliferation, migration, invasion, and colony formation in culture (PMID: 31161818), and therefore, is predicted to lead to a loss of Fbxw7 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 R479P |
Transcript | NM_001349798.2 |
gDNA | chr4:g.152326214C>G |
cDNA | c.1436G>C |
Protein | p.R479P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |