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Gene | FBXW7 |
Variant | D510E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | FBXW7 D510E lies within WD repeat 4 of the Fbxw7 protein (UniProt.org). D510E induces degradation of Myc, Mcl-1, Cyclin E (PMID: 27247421) and Braf in culture (PMID: 32907612), but results in loss of binding to Mlst8 (PMID: 34741373), loss of binding and degradation of NICD leading to increased Notch transcriptional activity in a reporter assay, transformation in the context of either the viral protein, Tax, TP53 R276H, or MYC F138C in cultured cells, and increased tumor growth in a transformed mouse model (PMID: 27247421). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 D510E |
Transcript | NM_033632.3 |
gDNA | chr4:g.152326120A>C |
cDNA | c.1530T>G |
Protein | p.D510E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047415897.1 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
XM_047415898.1 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
XM_047415899.1 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
XM_011532085.2 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
XM_024454123.1 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
NM_033632.3 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
NM_001349798.2 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
XM_024454124.1 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
XM_024454123.2 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
XM_047415900.1 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
XM_011532084.2 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
XM_047415901.1 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
NM_001349798.1 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
XM_024454121.1 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
XM_011532085.3 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
XM_011532084.3 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
XM_024454122.1 | chr4:g.152326120A>C | c.1530T>G | p.D510E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
FBXW7 D510E | loss of function |