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Gene | FBXW7 |
Variant | K239Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FBXW7 K239Q does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). K239Q has not been characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Oct 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 K239Q |
Transcript | NM_033632.3 |
gDNA | chr4:g.152346941T>G |
cDNA | c.715A>C |
Protein | p.K239Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047415900.1 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_011532083 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_011532084 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_011532085 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
NM_033632 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_017008362 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_047415897.1 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_047415901.1 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_011532084.3 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152346941T>G | c.715A>C | p.K239Q | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.152346941T>G | c.715A>C | p.K239Q | 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 |