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VHL Y112N - Gene Variant Detail

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Gene VHL
Variant Y112N
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL Y112N lies within the CCT complex-binding region of the Vhl protein (UniProt.org). Y112N confers a loss of function to the Vhl protein as demonstrated by reduced stability of the Vhl-Elongin B/C complex (PMID: 16261165), decreased Hif1a ubiquitination in in vitro assays (PMID: 16261165, PMID: 16407835), elevated Hif2a, Glut1, and cyclin D1 expression in normoxic conditions (PMID: 16407835, PMID: 17526729), increased cell proliferation in low serum conditions in culture (PMID: 17526729), and promotion of tumor formation in animal models (PMID: 17526729).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL Y112N

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Transcript NM_000551.4
gDNA chr3:g.10142181T>A
cDNA c.334T>A
Protein p.Y112N
Source Database RefSeq
Genome Build GRCh38/hg38

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

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