Gene Variant Detail

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Gene VHL
Variant R82P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL R82P does not lie within any known functional domains of the Vhl protein (UniProt.org). R82P confers a loss of function to the Vhl protein as demonstrated by loss of binding to Vdu1 and impaired ubiquitination of Vdu1 in cell culture (PMID: 11739384).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL R82P

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Transcript NM_000551.4
gDNA chr3:g.10142092G>C
cDNA c.245G>C
Protein p.R82P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_198156 chr3:g.10142092G>C c.245G>C p.R82P RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142092G>C c.245G>C p.R82P RefSeq GRCh38/hg38
NM_000551 chr3:g.10142092G>C c.245G>C p.R82P RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142092G>C c.245G>C p.R82P RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142092G>C c.245G>C p.R82P RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142092G>C c.245G>C p.R82P RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142092G>C c.245G>C p.R82P RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142092G>C c.245G>C p.R82P RefSeq GRCh38/hg38

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  • 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