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Gene FBXW7
Variant A503V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FBXW7 A503V lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). A503V results in aberrant cellular localization of Fbxw7 (PMID: 30510140) and decreased binding to large T antigen (PMID: 32427880), but demonstrates Notch1 intracellular domain binding similar to wild-type Fbxw7 in culture (PMID: 30510140), and therefore, its effect on Fbxw7 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 A503V

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Transcript NM_033632.3
gDNA chr4:g.152326142G>A
cDNA c.1508C>T
Protein p.A503V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024454124.1 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_017008362 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_011532084 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_011532085 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_011532083 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
NM_033632 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152326142G>A c.1508C>T p.A503V RefSeq GRCh38/hg38

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  • 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