VHL I151N
Gene Variant Detail

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Gene VHL
Variant I151N
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL I151N lies within the CCT complex-binding region of the Vhl protein (UniProt.org). I151N results in a HIF-dependent growth defect similar to VHL loss in a high-throughput cell culture assay (PMID: 38969834), and therefore, is predicted to lead to a loss of Vhl protein function.
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL I151N

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Transcript NM_000551.4
gDNA chr3:g.10146625T>A
cDNA c.452T>A
Protein p.I151N
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551 chr3:g.10146625T>A c.452T>A p.I151N RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10146625T>A c.452T>A p.I151N RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10146625T>A c.452T>A p.I151N RefSeq GRCh38/hg38

Filtering

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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References