Gene Variant Detail

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Gene VHL
Variant L188V
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL L188V does not lie within any known functional domains of the Vhl protein (UniProt.org). L188V demonstrates similar regulation of HIF-alpha, Glut1, and cyclin D1 to wild-type Vhl (PMID: 16452184, PMID: 17526729, PMID: 11331612), and has been demonstrated to both promote (PMID: 16452184) and suppress (PMID: 11331612) tumor formation; however, results in disrupted fibronectin matrix assembly (PMID: 11331612, PMID: 16452184) and elevated Rwdd3 (Rsume), Prkcz (aPKC), and Junb levels in cultured cells (PMID: 16098468, PMID: 30890701), 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 L188V

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Transcript NM_000551.4
gDNA chr3:g.10149885C>G
cDNA c.562C>G
Protein p.L188V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10149885C>G c.562C>G p.L188V RefSeq GRCh38/hg38
NM_000551 chr3:g.10149885C>G c.562C>G p.L188V RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10149885C>G c.562C>G p.L188V RefSeq GRCh38/hg38

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