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Gene VHL
Variant Y112H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL Y112H lies within the CCT complex-binding region of the Vhl protein (UniProt.org). Y112H confers a loss of function to the Vhl protein as demonstrated by decreased stability and impaired regulation of Hif1-alpha activity in culture (PMID: 16261165, PMID: 19030229).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL Y112H

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Transcript NM_000551.4
gDNA chr3:g.10142181T>C
cDNA c.334T>C
Protein p.Y112H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_198156 chr3:g.10142181T>C c.334T>C p.Y112H RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142181T>C c.334T>C p.Y112H RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142181T>C c.334T>C p.Y112H RefSeq GRCh38/hg38
NM_000551 chr3:g.10142181T>C c.334T>C p.Y112H RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142181T>C c.334T>C p.Y112H RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142181T>C c.334T>C p.Y112H RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142181T>C c.334T>C p.Y112H RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142181T>C c.334T>C p.Y112H RefSeq GRCh38/hg38

Filtering

  • 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