Gene Variant Detail

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Gene FBXW7
Variant G423V
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FBXW7 G423V lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). G423V confers a loss of function to the Fbxw7 protein, as demonstrated by aberrant subnuclear localization and the absence of Notch1 intracellular domain binding in culture, and elevated expression levels and stability of Notch1 intracellular domain in a patient sample (PMID: 30510140).
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 inact mut FBXW7 G423V

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Transcript NM_033632.3
gDNA chr4:g.152328358C>A
cDNA c.1268G>T
Protein p.G423V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011532085.2 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_047415902.1 chr4:g.152328274C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_011532087.3 chr4:g.152328274C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_011532086.2 chr4:g.152328274C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_011532087 chr4:g.152328274C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_017008362 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_024454125.1 chr4:g.152328274C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_011532083 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_011532086.3 chr4:g.152328274C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_011532085 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_011532084 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
NM_033632 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_011532087.2 chr4:g.152328274C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_011532086 chr4:g.152328274C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152328358C>A c.1268G>T p.G423V RefSeq GRCh38/hg38

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  • 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")

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