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VHL R161G - Gene Variant Detail

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Gene VHL
Variant R161G
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL R161G lies within the Elongin BC complex-interacting region of the Vhl protein (UniProt.org). R161G is predicted to confer a loss of function to the Vhl protein, as indicated by failure to bind to the elongin BC complex in an in vitro assay (PMID: 10587522).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL R161G

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Transcript NM_000551.4
gDNA chr3:g.10149804C>G
cDNA c.481C>G
Protein p.R161G
Source Database RefSeq
Genome Build GRCh38/hg38

Filtering

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  • 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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