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 | S546L |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | FBXW7 S546L lies within WD repeat 5 of the Fbxw7 protein (UniProt.org). S546L has been identified in sequencing studies (PMID: 26000489), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Jun 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
FBXW7 mutant FBXW7 S546L |
| Transcript | NM_001349798.2 |
| gDNA | chr4:g.152326013G>A |
| cDNA | c.1637C>T |
| Protein | p.S546L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017008362 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_011532085 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_011532084.3 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_047415899.1 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_011532085.3 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_024454122.1 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_047415901.1 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| NM_033632 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| NM_033632.3 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_011532085.2 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_047415897.1 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_024454123.1 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_024454123.2 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| NM_001349798.2 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_024454124.1 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_047415898.1 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_011532084 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_024454121.1 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| NM_001349798.1 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| NM_033632.3 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_011532083 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_047415900.1 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| XM_011532084.2 | chr4:g.152326013G>A | c.1637C>T | p.S546L | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|