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FBXW7 H468R - Gene Variant Detail

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Gene FBXW7
Variant H468R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FBXW7 H468R lies within WD repeat 3 of the Fbxw7 protein (UniProt.org). H468R confers a loss of function to the Fbxw7 protein as demonstrated by an inability to induce degradation of cyclin E, c-Myc, Mcl-1, and Braf in cultured cells, and confers resistance to some BET inhibitors in cultured cells (PMID: 32907612), and results in impaired degradation of NICD in cultured cells, potentially leading to increased Notch1 signaling (PMID: 27247421).
Associated Drug Resistance Y
Category Variants Paths

FBXW7 mutant FBXW7 inact mut FBXW7 H468R

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Transcript NM_033632.3
gDNA chr4:g.152328223T>C
cDNA c.1403A>G
Protein p.H468R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024454121.1 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152328223T>C c.1403A>G p.H468R RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References