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Gene VHL
Variant Y112N
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL Y112N lies within the CCT complex-binding region of the Vhl protein (UniProt.org). Y112N confers a loss of function to the Vhl protein as demonstrated by reduced stability of the Vhl-Elongin B/C complex (PMID: 16261165), decreased Hif1a ubiquitination in in vitro assays (PMID: 16261165, PMID: 16407835), elevated Hif2a, Glut1, and cyclin D1 expression in normoxic conditions (PMID: 16407835, PMID: 17526729), increased cell proliferation in low serum conditions in culture (PMID: 17526729), and promotion of tumor formation in animal models (PMID: 17526729).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL Y112N

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Transcript NM_000551.4
gDNA chr3:g.10142181T>A
cDNA c.334T>A
Protein p.Y112N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_198156.2 chr3:g.10142181T>A c.334T>A p.Y112N RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142181T>A c.334T>A p.Y112N RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142181T>A c.334T>A p.Y112N RefSeq GRCh38/hg38
NM_000551 chr3:g.10142181T>A c.334T>A p.Y112N RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142181T>A c.334T>A p.Y112N RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142181T>A c.334T>A p.Y112N RefSeq GRCh38/hg38
NM_198156 chr3:g.10142181T>A c.334T>A p.Y112N RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142181T>A c.334T>A p.Y112N 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