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Gene FBXW7
Variant R465H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FBXW7 R465H (corresponds to R385H in isoform 2) lies within the WD repeat 3 of the Fbxw7 protein (UniProt.org). R465H confers a loss of FBXW7-substrate interaction and impairs substrate degradation by FBXW7, resulting in sustained NICD and MYC expression (PMID: 17646409) and also has impaired degradation of Klf5 (PMID: 28963353).
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 inact mut FBXW7 R465H

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Transcript NM_033632.3
gDNA chr4:g.152328232C>T
cDNA c.1394G>A
Protein p.R465H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047415901.1 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_011532083 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
NM_033632 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_017008362 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_011532084 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_011532085 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152328232C>T c.1394G>A p.R465H RefSeq GRCh38/hg38

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FBXW7 R465H cervical cancer sensitive AZD7762 Preclinical - Cell culture Actionable In a preclinical study, a cervical cancer cell line harboring FBXW7 R465H demonstrated increased sensitivity to AZD7762 treatment compared to a cell line with wild-type FBXW7 in culture (PMID: 38032106). 38032106
FBXW7 R465H cervical cancer sensitive Adavosertib Preclinical - Cell culture Actionable In a preclinical study, a cervical cancer cell line harboring FBXW7 R465H demonstrated increased sensitivity to Adavosertib (MK-1775) treatment compared to a cell line with wild-type FBXW7 in culture (PMID: 38032106). 38032106
FBXW7 R465H lung adenocarcinoma sensitive Temsirolimus Case Reports/Case Series Actionable In a clinical case study, a patient with lung adenocarcinoma harboring FBXW7 R465H demonstrated tumor shrinkage when treated with Torisel (temsirolimus) (PMID: 24360397). 24360397
FBXW7 R465H T-cell adult acute lymphocytic leukemia resistant MRK-003 Preclinical Actionable In a preclinical study, FBXW7 R465H conferred resistance to gamma secretase inhibitor, MRK-003, by activation of the NOTCH pathway and stablization of MYC as demonstrated in T cell acute lymphoblastic leukemia (T-ALL) cell lines (PMID: 17646409). 17646409
FBXW7 R465H cervical cancer sensitive Ceralasertib Preclinical - Cell culture Actionable In a preclinical study, a cervical cancer cell line harboring FBXW7 R465H demonstrated increased sensitivity to Ceralasertib (AZD6738) treatment compared to cell lines with wild-type FBXW7 in culture (PMID: 38032106). 38032106
FBXW7 R465H cervical cancer sensitive RP-6306 Preclinical - Cell culture Actionable In a preclinical study, a cervical cancer cell line harboring FBXW7 R465H demonstrated increased sensitivity to RP-6306 treatment compared to a cell line with wild-type FBXW7 in culture (PMID: 38032106). 38032106