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Gene VHL
Variant W88L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions VHL W88L does not lie within any known functional domains of the Vhl protein (UniProt.org). W88L has been identified in sequencing studies (PMID: 24727139, PMID: 29118224), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, May 2024).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL W88L

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Transcript NM_000551.4
gDNA chr3:g.10142110G>T
cDNA c.263G>T
Protein p.W88L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.4 chr3:g.10142110G>T c.263G>T p.W88L RefSeq GRCh38/hg38
NM_198156 chr3:g.10142110G>T c.263G>T p.W88L RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142110G>T c.263G>T p.W88L RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142110G>T c.263G>T p.W88L RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142110G>T c.263G>T p.W88L RefSeq GRCh38/hg38
NM_000551 chr3:g.10142110G>T c.263G>T p.W88L RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142110G>T c.263G>T p.W88L RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142110G>T c.263G>T p.W88L 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