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Gene | FBXW7 |
Variant | R479L |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FBXW7 R479L lies within the WD repeat domain of the Fbxw7 protein (UniProt.org). R479L confers a loss of function to the Fbxw7 protein as demonstrated by increased ubiquitination and decreased stability of the Fbxw7 protein (PMID: 22608923). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 R479L |
Transcript | NM_033632.3 |
gDNA | chr4:g.152326214C>A |
cDNA | c.1436G>T |
Protein | p.R479L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047415897.1 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_011532083 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_047415901.1 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_011532084 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_047415900.1 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_017008362 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_011532085 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_011532084.3 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
NM_033632 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.152326214C>A | c.1436G>T | p.R479L | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FBXW7 R479L | loss of function | mTORC1 Inhibitor |