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| Gene | FBXW7 |
| Variant | Q275* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | FBXW7 Q275* results in a premature truncation of the Fbxw7 protein at amino acid 275 of 707 (UniProt.org). Q275* has not been characterized however, due to the effects of other truncation mutations downstream of Q275 (PMID: 30510140, PMID: 24838835), is predicted to lead to a loss of Fbxw7 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 Q275* |
| Transcript | NM_001349798.2 |
| gDNA | chr4:g.152337840G>A |
| cDNA | c.823C>T |
| Protein | p.Q275* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011532084.3 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_024454121.1 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_011532086.3 | chr4:g.152332674G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_011532085 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_024454125.1 | chr4:g.152332674G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_011532087 | chr4:g.152332674G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_017008362 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| NM_033632 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_011532085.3 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_047415901.1 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_047415902.1 | chr4:g.152332674G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_047415897.1 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| NM_033632.3 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_011532084.2 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_011532087.2 | chr4:g.152332674G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_011532086.2 | chr4:g.152332674G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| NM_033632.3 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_011532084 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_011532085.2 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_011532086 | chr4:g.152332674G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_024454124.1 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_047415900.1 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_011532087.3 | chr4:g.152332674G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_011532083 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| NM_001349798.1 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_047415899.1 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_024454123.2 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_024454123.1 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_047415898.1 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| NM_001349798.2 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| XM_024454122.1 | chr4:g.152337840G>A | c.823C>T | p.Q275* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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