FBXW7 W425R - Gene Variant Detail

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Gene FBXW7
Variant W425R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FBXW7 W425R lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). W425R results in degradation of Mcl1, but confers a loss of function to the Fbxw7 protein as demonstrated by impaired degradation of cyclin E, c-Myc, and Braf in cultured cells (PMID: 32907612) and leads to dimerization with wild-type Fbxw7 in cultured cells, thereby preventing degradation of NICD and potentially resulting in increased Notch signaling (PMID: 27247421), and confers resistance to some BET inhibitors in cultured cells (PMID: 32907612).
Associated Drug Resistance Y
Category Variants Paths

FBXW7 mutant FBXW7 inact mut FBXW7 W425R

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Transcript NM_033632.3
gDNA chr4:g.152328353A>T
cDNA c.1273T>A
Protein p.W425R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001349798.1 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152328353A>T c.1273T>A p.W425R RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152328353A>T c.1273T>A p.W425R 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 W425R adult T-cell leukemia/lymphoma resistant JQ1 Preclinical - Cell culture Actionable In a preclinical study, adult T cell leukemia cells expressing FBXW7 W425R demonstrated resistance to treatment with JQ1 in culture (PMID: 32907612). 32907612
FBXW7 W425R adult T-cell leukemia/lymphoma resistant Birabresib Preclinical - Cell culture Actionable In a preclinical study, adult T cell leukemia cells expressing FBXW7 W425R demonstrated resistance to treatment with Birabresib (OTX015) in culture (PMID: 32907612). 32907612