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VHL S183L - Gene Variant Detail

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Gene VHL
Variant S183L
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions VHL S183L does not lie within any known functional domains of the Vhl protein (UniProt.org). S183L confers a loss of function to the Vhl protein as indicated by decreased Vhl protein stability, impaired ability to regulate Hif1a degradation, and increased expression of Hif1a target genes in cultured cells (PMID: 21454469).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL S183L

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Transcript NM_000551.4
gDNA chr3:g.10149871C>T
cDNA c.548C>T
Protein p.S183L
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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