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VHL R64P - Gene Variant Detail

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Gene VHL
Variant R64P
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL R64P does not lie within any known functional domains of the Vhl protein (UniProt.org). R64P demonstrates regulation of Hif2a and Glut1 similar to wild-type Vhl (PMID: 16452184, PMID: 16098468), however, results in disrupted fibronectin matrix assembly (PMID: 11331612, PMID: 16452184) and mitochondrial biogenesis (PMID: 35760869), increased Prkcz (aPKC) and Junb levels in cultured cells (PMID: 16098468), and increased tumor vascularization compared to controls in mouse models (PMID: 16452184), and therefore, is predicted to lead to a loss of Vhl protein function.
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL R64P

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Transcript NM_000551.4
gDNA chr3:g.10142038G>C
cDNA c.191G>C
Protein p.R64P
Source Database RefSeq
Genome Build GRCh38/hg38

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