Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | FBXW7 |
| Variant | G499Vfs*25 |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | FBXW7 G499Vfs*25 indicates a shift in the reading frame starting at amino acid 499 and terminating 25 residues downstream causing a premature truncation of the 707 amino acid Fbxw7 protein (UniProt.org). Due to the loss of multiple WD domains (UniProt.org), G499Vfs*25 is predicted to lead to a loss of Fbxw7 protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 G499Vfs*25 |
| Transcript | NM_001349798.2 |
| gDNA | chr4:g.152326156delC |
| cDNA | c.1496delG |
| Protein | p.G499Vfs*25 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_024454124.1 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_024454123.2 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| NM_018315.4 | chr4:g.(152324227_152324304) | c.(1495_1572) | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_047415899.1 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_024454123.1 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_024454126.1 | chr4:g.(152322932_152323009) | c.(1495_1572) | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_011532088 | chr4:g.(152322932_152323009) | c.(1495_1572) | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_047415898.1 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_011532083 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| NM_033632.3 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| NM_001349798.1 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_011532085 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_024454122.1 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_011532085.3 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| NM_033632.3 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| NM_018315.5 | chr4:g.(152324227_152324304) | c.(1495_1572) | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_011532088.2 | chr4:g.(152322932_152323009) | c.(1495_1572) | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_047415901.1 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_024454121.1 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_011532084 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| NM_001349798.2 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_011532084.2 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_047415897.1 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_017008362 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| NM_018315 | chr4:g.(152324227_152324304) | c.(1495_1572) | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| NM_033632 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_047415900.1 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_011532084.3 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_024454126.2 | chr4:g.(152322932_152323009) | c.(1495_1572) | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| XM_011532085.2 | chr4:g.152326156delC | c.1496delG | p.G499Vfs*25 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| FBXW7 G499Vfs*25 | loss of function - predicted | mTORC1 Inhibitor |