Gene Variant Detail

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Gene VHL
Variant L184R
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL L184R does not lie within any known functional domains of the Vhl protein (UniProt.org). L184R results in a HIF-dependent growth defect similar to VHL loss in a high-throughput cell culture assay (PMID: 38969834), 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 L184R

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Transcript NM_000551.4
gDNA chr3:g.10149874T>G
cDNA c.551T>G
Protein p.L184R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.3 chr3:g.10149874T>G c.551T>G p.L184R RefSeq GRCh38/hg38
NM_000551 chr3:g.10149874T>G c.551T>G p.L184R RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10149874T>G c.551T>G p.L184R 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