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Gene | FBXW7 |
Variant | G423R |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FBXW7 G423R lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). G423R results in decreased degradation of Cyclin E1 and Cyclin E2 compared to wild-type Fbxw7 in culture (PMID: 35395208), but does not enhance xenograft tumor growth in animal models (PMID: 24838835) and therefore, its effect on Fbxw7 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 G423R |
Transcript | NM_033632.3 |
gDNA | chr4:g.152328359C>T |
cDNA | c.1267G>A |
Protein | p.G423R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047415902.1 | chr4:g.152328275C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_011532085 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_011532087.2 | chr4:g.152328275C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_011532087 | chr4:g.152328275C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_024454125.1 | chr4:g.152328275C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_047415897.1 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_011532087.3 | chr4:g.152328275C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_011532086.2 | chr4:g.152328275C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_011532086 | chr4:g.152328275C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_047415901.1 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_011532086.3 | chr4:g.152328275C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
NM_033632 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_017008362 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_011532084 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_011532083 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_047415900.1 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
XM_011532084.3 | chr4:g.152328359C>T | c.1267G>A | p.G423R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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