FBXW7 R479L
Gene Variant Detail

Request Content

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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
Category Variants Paths

FBXW7 mutant FBXW7 inact mut FBXW7 R479L

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.

Transcript NM_001349798.2
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
NM_033632.3 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_011532084.3 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_011532084.2 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_047415898.1 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_024454124.1 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_001349798.2 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152326214C>A c.1436G>T p.R479L RefSeq GRCh38/hg38
XM_011532085 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 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