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FBXW7 R465C - Gene Variant Detail

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Gene FBXW7
Variant R465C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FBXW7 R465C lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). R465C confers a loss of Fbxw7 protein function as demonstrated by a loss of Fbxw7-substrate interaction and impaired substrate degradation by Fbxw7, resulting in sustained Notch1 intracellular domain and Myc expression (PMID: 17646409), impaired degradation of Klf5 (PMID: 28963353), aberrant subnuclear localization relative to wild-type Fbxw7 in culture (PMID: 30510140), and reduced suppression of migration, invasion, and colony formation in culture (PMID: 31161818).
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 inact mut FBXW7 R465C

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Transcript NM_033632.3
gDNA chr4:g.152328233G>A
cDNA c.1393C>T
Protein p.R465C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024454123.2 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_017008362 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_011532085 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_011532083 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
XM_011532084 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38
NM_033632 chr4:g.152328233G>A c.1393C>T p.R465C RefSeq GRCh38/hg38

Filtering

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  • 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FBXW7 R465C T-cell adult acute lymphocytic leukemia resistant MRK-003 Preclinical Actionable In a preclinical study, FBXW7 R465C 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