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Gene | FBXW7 |
Variant | H468R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FBXW7 H468R lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). H468R confers a loss of function to the Fbxw7 protein as demonstrated by an inability to induce degradation of cyclin E, c-Myc, Mcl-1, and Braf in cultured cells, and confers resistance to some BET inhibitors in cultured cells (PMID: 32907612), and results in impaired degradation of NICD in cultured cells, potentially leading to increased Notch1 signaling (PMID: 27247421). |
Associated Drug Resistance | Y |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 H468R |
Transcript | NM_033632.3 |
gDNA | chr4:g.152328223T>C |
cDNA | c.1403A>G |
Protein | p.H468R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047415897.1 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
XM_047415901.1 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
XM_047415900.1 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
XM_011532084.3 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152328223T>C | c.1403A>G | p.H468R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
FBXW7 H468R | adult T-cell leukemia/lymphoma | resistant | JQ1 | Preclinical - Cell culture | Actionable | In a preclinical study, adult T cell leukemia cells expressing FBXW7 H468R were resistant to treatment with JQ1 in culture (PMID: 32907612). | 32907612 |
FBXW7 H468R | adult T-cell leukemia/lymphoma | resistant | Birabresib | Preclinical - Cell culture | Actionable | In a preclinical study, adult T cell leukemia cells expressing FBXW7 H468R were resistant to treatment with Birabresib (OTX015) in culture (PMID: 32907612). | 32907612 |