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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 |
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_011532085.2 | 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 |
XM_024454121.1 | 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 |
NM_033632.3 | 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_024454124.1 | 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_001349798.2 | 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_011532084.3 | 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_047415899.1 | 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_011532085.3 | 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_047415897.1 | 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_017008362 | 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 |
XM_011532083 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FBXW7 mutant | Her2-receptor negative breast cancer | predicted - sensitive | LY3039478 | Case Reports/Case Series | Actionable | In a Phase I trial, LY3039478 treatment resulted in partial response lasted 9.5 months in a patient with hormone receptor-positive, Erbb2 (Her2)-negative breast cancer harboring FBXW7 mutation (PMID: 30060061; NCT01695005). | 30060061 |