Gene Variant Detail

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 D480N
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FBXW7 D480N lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). D480N results in aberrant subnuclear localization and decreased Notch1 intracellular domain binding in culture (PMID: 30510140), and therefore, is predicted to lead to a loss of Fbxw7 protein function.
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 inact mut FBXW7 D480N

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_033632.3
gDNA chr4:g.152326212C>T
cDNA c.1438G>A
Protein p.D480N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011532085.3 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_011532083 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_011532085 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
NM_033632 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_011532084 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_017008362 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
NM_018315 chr4:g.152324361C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
NM_018315.4 chr4:g.152324361C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
NM_018315.5 chr4:g.152324361C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152326212C>T c.1438G>A p.D480N RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152326212C>T c.1438G>A p.D480N 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries