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Gene VHL
Variant P86H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL P86H does not lie within any known functional domains of the Vhl protein (UniProt.org). P86H confers a loss of function to the Vhl protein as demonstrated by failure to suppress GLUT1 expression and impaired regulatory activity of Hif1-alpha (PMID: 10535940).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL P86H

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Transcript NM_000551.4
gDNA chr3:g.10142104C>A
cDNA c.257C>A
Protein p.P86H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_198156 chr3:g.10142104C>A c.257C>A p.P86H RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142104C>A c.257C>A p.P86H RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142104C>A c.257C>A p.P86H RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142104C>A c.257C>A p.P86H RefSeq GRCh38/hg38
NM_000551 chr3:g.10142104C>A c.257C>A p.P86H RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142104C>A c.257C>A p.P86H RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142104C>A c.257C>A p.P86H RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142104C>A c.257C>A p.P86H RefSeq GRCh38/hg38

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  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

Sorting

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