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Gene VHL
Variant N78K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions VHL N78K does not lie within any known functional domains of the Vhl protein (UniProt.org). N78K has been identified in sequencing studies (PMID: 23434146, PMID: 11921283, PMID: 38344974), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL N78K

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Transcript NM_000551.4
gDNA chr3:g.10142081T>G
cDNA c.234T>G
Protein p.N78K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_198156.3 chr3:g.10142081T>G c.234T>G p.N78K RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142081T>G c.234T>G p.N78K RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142081T>G c.234T>G p.N78K RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142081T>G c.234T>G p.N78K RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142081T>G c.234T>G p.N78K RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142081T>G c.234T>G p.N78K 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.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
VHL N78K clear cell renal cell carcinoma predicted - sensitive Belzutifan Case Reports/Case Series Actionable In a clinical case study, a patient with metastatic clear cell renal cell carcinoma harboring VHL N78K responded to treatment with Welireg (belzutifan) as a second-line therapy (PMID: 38344974). 38344974