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FBXW7 R689W - Gene Variant Detail

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Gene FBXW7
Variant R689W
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FBXW7 R689W does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). R689W results in increased levels of phosphorylated Rictor, Akt, Gsk, and p70s6 (PMID: 29963728), and decreased interaction with the T244 degron of Myc in the context of an F-box domain deletion in culture (PMID: 35089787), 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 R689W

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Transcript NM_033632.3
gDNA chr4:g.152322940G>A
cDNA c.2065C>T
Protein p.R689W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024454124.1 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_011532083 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_011532084 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_011532085 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_017008362 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
NM_033632 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152322940G>A c.2065C>T p.R689W RefSeq GRCh38/hg38

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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 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 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 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