FBXW7 R465C
Gene Variant Detail

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Gene FBXW7
Variant R465C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FBXW7 R465C lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). R465C confers a loss of Fbxw7 protein function as demonstrated by a loss of Fbxw7-substrate interaction and impaired substrate degradation by Fbxw7, resulting in sustained Notch1 intracellular domain and Myc expression (PMID: 17646409), impaired degradation of Klf5 (PMID: 28963353), aberrant subnuclear localization relative to wild-type Fbxw7 in culture (PMID: 30510140), and reduced suppression of migration, invasion, and colony formation in culture (PMID: 31161818).
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 inact mut FBXW7 R465C

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Transcript NM_001349798.2
gDNA chr4:g.152328233G>A
cDNA c.1393C>T
Protein p.R465C
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.