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 R465Y
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FBXW7 R465Y lies within the WD repeat domain of the Fbxw7 protein (UniProt.org). R465Y has not been characterized however, other R465 hotspots inactivate Fbxw7, and therefore, R465Y is predicted to lead to a loss of function (PMID: 17646409, PMID: 17909001, PMID: 19340001).
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 inact mut FBXW7 R465Y

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.152328232_152328233delCGinsTA
cDNA c.1393_1394delCGinsTA
Protein p.R465Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001349798.2 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_017008362 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
NM_033632 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_011532083 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_011532085 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_011532084 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328232_152328233delCGinsTA c.1393_1394delCGinsTA p.R465Y 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 inact mut hematologic cancer sensitive REC-2282 Preclinical Actionable In a preclinical study, REC-2282 (AR-42) inhibited human hematologic cancer cell lines harboring FBXW7 inactivating mutations in culture (PMID: 23274910). 23274910
FBXW7 inact mut Advanced Solid Tumor sensitive REC-2282 Preclinical Actionable In a preclinical study, REC-2282 (AR-42) inhibited human cancer cell lines harboring FBXW7 inactivating mutations in culture (PMID: 23274910). 23274910
FBXW7 inact mut Advanced Solid Tumor sensitive Belinostat Preclinical Actionable In a preclinical study, Beleodaq (belinostat) inhibited human cancer cell lines harboring FBXW7 inactivating mutations in culture (PMID: 23274910). 23274910
FBXW7 inact mut hematologic cancer sensitive Entinostat Preclinical Actionable In a preclinical study, entinostat (MS-275) inhibited cancer cells from advanced solid tumors and hematological cells harboring FBXW7 inactivating mutations in culture (PMID: 23274910). 23274910
FBXW7 inact mut Advanced Solid Tumor resistant Docetaxel Preclinical Actionable In a preclinical study, human cancer cell lines harboring FBXW7 inactivating mutations were resistant to docetaxel in culture (PMID: 23274910). 23274910
FBXW7 inact mut breast cancer sensitive Sirolimus Preclinical - Cell line xenograft Actionable In a preclinical study, breast cancer cells harboring a FBXW7 mutation demonstrated sensitivity to Rapamune (sirolimus) in culture and in cell line xenograft models (PMID: 18787170). 18787170
FBXW7 inact mut Advanced Solid Tumor sensitive Entinostat Preclinical Actionable In a preclinical study, entinostat (MS-275) inhibited cancer cells from advanced solid tumors and hematological cells harboring FBXW7 inactivating mutations in culture (PMID: 23274910). 23274910
FBXW7 inact mut hematologic cancer sensitive Belinostat Preclinical Actionable In a preclinical study, Beleodaq (belinostat) inhibited human hematologic cancer cell lines harboring FBXW7 inactivating mutations in culture (PMID: 23274910). 23274910
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