Gene Variant Detail

Gene FBXW7
Variant R505L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FBXW7 R505L lies within the WD repeat 4 of the Fbxw7 protein (UniProt.org). R505L confers a loss of function on Fbxw7, as demonstrated by activation of the NOTCH pathway in cultured cells (PMID: 17646409) and the inability to bind substrates (PMID: 28522751).
Associated Drug Resistance

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Transcript NM_033632
gDNA chr4:g.152326136C>A
cDNA c.1514G>T
Protein p.R505L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011532085 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
NM_033632 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_011532083 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_011532084 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_017008362 chr4:g.152326136C>A c.1514G>T p.R505L 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 R505L loss of function mTORC1 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FBXW7 R505L T-cell adult acute lymphocytic leukemia resistant MRK-003 Preclinical Actionable In a preclinical study, FBXW7 R505L may conferred resistance to gamma secretase inhibitor, MRK-003, by activation of the NOTCH pathway and stablization of MYC as demonstrated in T cell acute lymphoblastic leukemia (T-ALL) cell lines (PMID: 17646409). 17646409