Gene Variant Detail

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Gene VHL
Variant L89H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL L89H does not lie within any known functional domains of the Vhl protein (UniProt.org). L89H results in increased expression of Hif1a under both normoxic and hypoxic conditions in cultured cells (PMID: 32234874) and is associated with increased SALL4 gene expression in cell culture (PMID: 32513235), 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 L89H

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Transcript NM_000551.4
gDNA chr3:g.10142113T>A
cDNA c.266T>A
Protein p.L89H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551 chr3:g.10142113T>A c.266T>A p.L89H RefSeq GRCh38/hg38
NM_198156 chr3:g.10142113T>A c.266T>A p.L89H RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142113T>A c.266T>A p.L89H RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142113T>A c.266T>A p.L89H RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142113T>A c.266T>A p.L89H RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142113T>A c.266T>A p.L89H RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142113T>A c.266T>A p.L89H RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142113T>A c.266T>A p.L89H RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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