Gene Variant Detail

Gene FBXW7
Variant R479H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FBXW7 R479H lies within the WD repeat domain of the Fbxw7 protein (UniProt.org). R479H confers a loss of FBXW7-substrate interaction and impairs substrate degradation by FBXW7, resulting in activation of a Notch-driven reporter (PMID: 17575125).
Associated Drug Resistance

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Transcript NM_033632
gDNA chr4:g.152326213_152326214delTCinsAT
cDNA c.1436_1437delGAinsAT
Protein p.R479H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011532083 chr4:g.152326213_152326214delTCinsAT c.1436_1437delGAinsAT p.R479H RefSeq GRCh38/hg38
XM_011532085 chr4:g.152326213_152326214delTCinsAT c.1436_1437delGAinsAT p.R479H RefSeq GRCh38/hg38
XM_011532084 chr4:g.152326213_152326214delTCinsAT c.1436_1437delGAinsAT p.R479H RefSeq GRCh38/hg38
XM_017008362 chr4:g.152326213_152326214delTCinsAT c.1436_1437delGAinsAT p.R479H RefSeq GRCh38/hg38
NM_033632 chr4:g.152326213_152326214delTCinsAT c.1436_1437delGAinsAT p.R479H RefSeq GRCh38/hg38

Filtering

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  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Protein Effect Treatment Approaches
FBXW7 R479H loss of function mTORC1 Inhibitor
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References