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FBXW7 D510E - Gene Variant Detail

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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

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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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Protein Effect Treatment Approaches
FBXW7 D510E loss of function