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Gene FBXW7
Variant V504I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FBXW7 V504I lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). V504I has been identified in sequencing studies (PMID: 17909001), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 V504I

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Transcript NM_033632.3
gDNA chr4:g.152326140C>T
cDNA c.1510G>A
Protein p.V504I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024454123.1 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_011532085 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_011532084 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_024454126.2 chr4:g.152322994C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
NM_033632 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_011532088 chr4:g.152322994C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_011532083 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_024454126.1 chr4:g.152322994C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_017008362 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_011532088.2 chr4:g.152322994C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152326140C>T c.1510G>A p.V504I RefSeq 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.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FBXW7 mutant Her2-receptor negative breast cancer predicted - sensitive LY3039478 Case Reports/Case Series Actionable In a Phase I trial, LY3039478 treatment resulted in partial response lasted 9.5 months in a patient with hormone receptor-positive, Erbb2 (Her2)-negative breast cancer harboring FBXW7 mutation (PMID: 30060061; NCT01695005). 30060061