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 I347M
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FBXW7 I347M does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). I347M is predicted to have activity similar to wild-type Fbxw7 based on comparison and correlation analysis of induced gene expression signatures (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 I347M

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.152330813T>C
cDNA c.1041A>G
Protein p.I347M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_033632.3 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_017008362 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_011532084 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_011532085 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_011532083 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
NM_033632 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152330813T>C c.1041A>G p.I347M RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152330813T>C c.1041A>G p.I347M 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