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Gene | FBXW7 |
Variant | L443H |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FBXW7 L443H lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). L443H results in increased migration and invasion, but has no effect on cell proliferation and variable effect on colony formation in culture (PMID: 31161818), and therefore, its effect on Fbxw7 protein is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 L443H |
Transcript | NM_001349798.2 |
gDNA | chr4:g.152328298A>T |
cDNA | c.1328T>A |
Protein | p.L443H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |