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Gene | FBXW7 |
Variant | E117del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | FBXW7 E117del results in the deletion of an amino acid in the Fbxw7 protein at amino acid 117 (UniProt.org). E117del has been identified in sequencing studies (PMID: 35770320, PMID: 27284958, PMID: 29134647), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 E117del |
Transcript | NM_033632.3 |
gDNA | chr4:g.152411465_152411467delCTC |
cDNA | c.349_351delGAG |
Protein | p.E117del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011532085.2 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
NM_033632 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
NM_001257069 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_011532084 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_047415901.1 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_017008362 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_047415897.1 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_011532083 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_047415900.1 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_011532085 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_047415900.1 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
NM_001257069.1 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
XM_011532084.3 | chr4:g.152411465_152411467delCTC | c.349_351delGAG | p.E117del | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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