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FBXW7 L443F - Gene Variant Detail

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Gene FBXW7
Variant L443F
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions FBXW7 L443F lies within WD repeat 2 of the Fbxw7 protein (UniProt.org). L443F induces degradation of Mcl-1 and Braf similar to wild-type Fbxw7 in culture but fails to induce Cyclin E degradation (PMID: 32907612) and results in a loss of NICD degradation leading to increased Notch transcriptional activity in a reporter assay (PMID: 27247421), and therefore, is predicted to lead to a loss of Fbxw7 protein function.
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 inact mut FBXW7 L443F

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Transcript NM_033632.3
gDNA chr4:g.152328299G>A
cDNA c.1327C>T
Protein p.L443F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047415901.1 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152328299G>A c.1327C>T p.L443F RefSeq GRCh38/hg38

Filtering

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