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Gene | FBXW7 |
Variant | S227A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FBXW7 S227A lies within a phosphorylation site in the Fbxw7 protein (PMID: 21147854). S227A confers a loss of function to the Fbxw7 protein as demonstrated by the inability of S227A to induce apoptosis (PMID: 21620836), and reduced degradation of c-Myc and Notch1 intracellular domain relative to wild-type Fbxw7 in culture due to the loss of phosphorylation by Sgk1 (PMID: 21147854). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 S227A |
Transcript | NM_033632.3 |
gDNA | chr4:g.152346977A>C |
cDNA | c.679T>G |
Protein | p.S227A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047415900.1 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_047415901.1 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_011532083 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_017008362 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_047415897.1 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_011532085 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_011532084.3 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_011532084 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
NM_033632 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.152346977A>C | c.679T>G | p.S227A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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