FBXW7 R505L
Gene Variant Detail

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Gene FBXW7
Variant R505L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FBXW7 R505L lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). R505L results in decreased Braf ubiquitination (PMID: 29880484) and fails to bind telomeric DNA in cultured cells (PMID: 33086033), 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 R505L

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Transcript NM_001349798.2
gDNA chr4:g.152326136C>A
cDNA c.1514G>T
Protein p.R505L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_033632 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_011532084 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_017008362 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_011532083 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152326136C>A c.1514G>T p.R505L RefSeq GRCh38/hg38
XM_011532085 chr4:g.152326136C>A c.1514G>T p.R505L 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 R505L T-cell adult acute lymphocytic leukemia resistant MRK-003 Preclinical Actionable In a preclinical study, FBXW7 R505L may 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