Gene Variant Detail

Gene FBXW7
Variant R479L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FBXW7 R479L lies within the WD repeat domain of the Fbxw7 protein (UniProt.org). R479L confers a loss of function to the Fbxw7 protein as demonstrated by increased ubiquitination and decreased stability of the Fbxw7 protein (PMID: 22608923).
Associated Drug Resistance

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Transcript NM_033632
gDNA chr4:g.152326214C>A
cDNA c.1436G>T
Protein p.R479L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011532085 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_011532083 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_011532084 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_017008362 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
NM_033632 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.

Molecular Profile Protein Effect Treatment Approaches
FBXW7 R479L loss of function mTORC1 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References