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Gene FBXW7
Variant T416A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FBXW7 T416A lies within WD repeat 1 of the Fbxw7 protein (UniProt.org). T416A retains the ability to bind and degrade NICD (PMID: 27247421, PMID: 32907612), Myc, Mcl-1, Braf, Cyclin E (PMID: 32907612), and Mlst8 in culture (PMID: 34741373), but results in decreased inhibition of Notch transcriptional activity in a reporter assay (PMID: 27247421), and therefore, its effect on Fbxw7 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 T416A

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Transcript NM_033632.3
gDNA chr4:g.152328380T>C
cDNA c.1246A>G
Protein p.T416A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_024454123.2 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
XM_047415900.1 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152328380T>C c.1246A>G p.T416A RefSeq GRCh38/hg38

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