Gene Variant Detail

Gene FBXW7
Variant R465L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FBXW7 R465L lies within the WD repeat domain 3 of the Fbxw7 protein (UniProt.org). R465L confers a loss of FBXW7-substrate interaction and impairs substrate degradation by FBXW7, resulting in activation of a Notch-driven reporter (PMID: 19340001).
Associated Drug Resistance

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Transcript NM_033632
gDNA chr4:g.152328232C>A
cDNA c.1394G>T
Protein p.R465L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011532083 chr4:g.152328232C>A c.1394G>T p.R465L RefSeq GRCh38/hg38
XM_011532084 chr4:g.152328232C>A c.1394G>T p.R465L RefSeq GRCh38/hg38
XM_017008362 chr4:g.152328232C>A c.1394G>T p.R465L RefSeq GRCh38/hg38
NM_033632 chr4:g.152328232C>A c.1394G>T p.R465L RefSeq GRCh38/hg38
XM_011532085 chr4:g.152328232C>A c.1394G>T p.R465L 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

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  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
FBXW7 R465L loss of function mTORC1 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References