VHL F91L - Gene Variant Detail

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Gene VHL
Variant F91L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL F91L does not lie within any known functional domains of the Vhl protein (UniProt.org). F91L results in impaired binding to Hif1a and Hif2a in an in vitro assay (PMID: 31337753), and therefore, is predicted to lead to a loss of Vhl protein function.
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL F91L

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Transcript NM_000551.4
gDNA chr3:g.10142118T>C
cDNA c.271T>C
Protein p.F91L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.4 chr3:g.10142118T>C c.271T>C p.F91L RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142118T>C c.271T>C p.F91L RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142118T>C c.271T>C p.F91L RefSeq GRCh38/hg38
NM_000551 chr3:g.10142118T>C c.271T>C p.F91L RefSeq GRCh38/hg38
NM_198156 chr3:g.10142118T>C c.271T>C p.F91L RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142118T>C c.271T>C p.F91L RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142118T>C c.271T>C p.F91L RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142118T>C c.271T>C p.F91L 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries