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VHL C162F - Gene Variant Detail

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Gene VHL
Variant C162F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL C162F lies within the Elongin BC complex-interacting region of the Vhl protein (UniProt.org). C162F leads to a loss of Vhl function as indicated by failure to bind to Elongin BC complex and inhibition of ubiquitin-dependent proteolysis in cell culture (PMID: 9447969, PMID: 11331612).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL C162F

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Transcript NM_000551.4
gDNA chr3:g.10149808G>T
cDNA c.485G>T
Protein p.C162F
Source Database RefSeq
Genome Build GRCh38/hg38

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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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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