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Gene VHL
Variant H115R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions VHL H115R lies within the CCT complex-binding region of the Vhl protein (UniProt.org). H115R results in exon 2 skipping splice variants similar to wild-type (PMID: 36905328) and is predicted to disrupt the Hif1a binding activity of the Vhl protein based on computer modeling (PMID: 22105711), 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 H115R

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Transcript NM_000551.4
gDNA chr3:g.10146517A>G
cDNA c.344A>G
Protein p.H115R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.4 chr3:g.10146517A>G c.344A>G p.H115R RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10146517A>G c.344A>G p.H115R RefSeq GRCh38/hg38
NM_000551 chr3:g.10146517A>G c.344A>G p.H115R RefSeq GRCh38/hg38

Filtering

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  • 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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