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FBXW7 R465H - Gene Variant Detail

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Gene FBXW7
Variant R465H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FBXW7 R465H (corresponds to R385H in isoform 2) lies within the WD repeat 3 of the Fbxw7 protein (UniProt.org). R465H confers a loss of FBXW7-substrate interaction and impairs substrate degradation by FBXW7, resulting in sustained NICD and MYC expression (PMID: 17646409) and also has impaired degradation of Klf5 (PMID: 28963353).
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 inact mut FBXW7 R465H

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Transcript NM_033632.3
gDNA chr4:g.152328232C>T
cDNA c.1394G>A
Protein p.R465H
Source Database RefSeq
Genome Build GRCh38/hg38

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