FBXW7 L443F
Gene Variant Detail

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Gene FBXW7
Variant L443F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FBXW7 L443F lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). L443F induces degradation of Mcl-1 and Braf similar to wild-type Fbxw7 in culture but fails to induce Cyclin E degradation (PMID: 32907612) and results in a loss of NICD degradation leading to increased Notch transcriptional activity in a reporter assay (PMID: 27247421), 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 L443F

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Transcript NM_001349798.2
gDNA chr4:g.152328299G>A
cDNA c.1327C>T
Protein p.L443F
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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