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Gene VHL
Variant D126N
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL D126N lies within the CCT complex-binding region of the Vhl protein (UniProt.org). D126N confers a loss of function to the Vhl protein as indicated by decreased Vhl protein stability, impaired ability to regulate Hif1a degradation, and increased expression of Hif1a target genes in cultured cells (PMID: 21454469).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL D126N

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Transcript NM_000551.4
gDNA chr3:g.10146549G>A
cDNA c.376G>A
Protein p.D126N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10146549G>A c.376G>A p.D126N RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10146549G>A c.376G>A p.D126N RefSeq GRCh38/hg38
NM_000551 chr3:g.10146549G>A c.376G>A p.D126N 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References