Gene Variant Detail

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: 24909261, PMID: 27284958), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Nov 2018).
Associated Drug Resistance

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Transcript NM_033632
gDNA chr4:g.152411465_152411467delCTC
cDNA c.349_351delGAG
Protein p.E117delE
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001257069 chr4:g.152411465_152411467delCTC c.349_351delGAG p.E117delE RefSeq GRCh38/hg38
XM_017008362 chr4:g.152411465_152411467delCTC c.349_351delGAG p.E117delE RefSeq GRCh38/hg38
XM_011532084 chr4:g.152411465_152411467delCTC c.349_351delGAG p.E117delE RefSeq GRCh38/hg38
XM_011532083 chr4:g.152411465_152411467delCTC c.349_351delGAG p.E117delE RefSeq GRCh38/hg38
XM_011532087 chr4:g.152382255_152382257delATG c.351_353delTCA p.H117delH RefSeq GRCh38/hg38
XM_011532086 chr4:g.152382255_152382257delATG c.351_353delTCA p.H117delH RefSeq GRCh38/hg38
XM_011532085 chr4:g.152411465_152411467delCTC c.349_351delGAG p.E117delE RefSeq GRCh38/hg38
NM_001013415 chr4:g.152346951_152346953delCTG c.349_351delCAG p.Q117delQ RefSeq GRCh38/hg38
NM_033632 chr4:g.152411465_152411467delCTC c.349_351delGAG p.E117delE RefSeq GRCh38/hg38
XM_011532088 chr4:g.152337811_152337813delGAG c.350_352delTCC p.L117delL RefSeq GRCh38/hg38
NM_018315 chr4:g.152347065_152347067delAGT c.349_351delACT p.T117delT RefSeq GRCh38/hg38

Filtering

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Molecular Profile Protein Effect Treatment Approaches
FBXW7 E117del unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References