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Gene | FBXW7 |
Variant | T15_G16insP |
Impact List | insertion |
Protein Effect | loss of function |
Gene Variant Descriptions | FBXW7 T15_G16insP results in the insertion of a proline (P) in the Fbxw7 protein between amino acids 15 and 16 (UniProt.org). T15_G16insP results in decreased binding of Fbxw7 to cyclinE1 and aberrant Fbxw7 localization in cell culture (PMID: 17909001). |
Associated Drug Resistance | |
Category Variants Paths |
FBXW7 mutant FBXW7 inact mut FBXW7 T15_G16insP |
Transcript | NM_001349798.2 |
gDNA | chr4:g.152411760_152411761insGAG |
cDNA | c.45_46insCCT |
Protein | p.T15_G16insP |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |