Gene Variant Detail

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Gene VHL
Variant S65W
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL S65W does not lie within any known domains of the Vhl protein (UniProt.org). S65W results in reduced Vhl protein stability and impaired binding to Hif2a, leading to increased Hif2a stability, upregulation of EMT markers, and increased migration and invasion in cell culture (PMID: 15611064, PMID: 35505422).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL S65W

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Transcript NM_000551.4
gDNA chr3:g.10142041C>G
cDNA c.194C>G
Protein p.S65W
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38
NM_198156 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142041C>G c.194C>G p.S65W RefSeq GRCh38/hg38

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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 )
  • 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