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FBXW7 R505C - Gene Variant Detail

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Gene FBXW7
Variant R505C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FBXW7 R505C lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). R505C results in ubiquitination and degradation of Braf similar to wild-type Fbxw7 in cultured cells (PMID: 32907612), but confers a loss of function to Fbxw7 as indicated by a loss of binding to NICD in cell culture (PMID: 17646409), impaired degradation of NICD, resulting in increased activity in a luciferase assay (PMID: 27247421), failure to degrade cyclin E, c-Myc, and Mcl1 in cell culture (PMID: 32907612), aberrant subnuclear localization (PMID: 30510140), and impaired degradation of Klf5 in cell culture (PMID: 28963353).
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 inact mut FBXW7 R505C

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Transcript NM_033632.3
gDNA chr4:g.152326137G>A
cDNA c.1513C>T
Protein p.R505C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024454123.2 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_011532083 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_011532085 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_011532084 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
NM_033632 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_017008362 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152326137G>A c.1513C>T p.R505C RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152326137G>A c.1513C>T p.R505C 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 Protein Effect Treatment Approaches
FBXW7 R505C loss of function mTORC1 Inhibitor