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 | S462Y |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | FBXW7 S462Y lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). S462Y is predicted to have activity similar to wild-type Fbxw7 based on comparison and correlation analysis of induced gene expression signatures (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 S462Y |
Transcript | NM_033632.3 |
gDNA | chr4:g.152328241G>T |
cDNA | c.1385C>A |
Protein | p.S462Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011532084 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_011532083 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_047415897.1 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_011532084.3 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_011532085 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_017008362 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_047415901.1 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_047415900.1 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
NM_033632 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152328241G>T | c.1385C>A | p.S462Y | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|