VHL Y112C
Gene Variant Detail

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Gene VHL
Variant Y112C
Impact List missense
Protein Effect unknown
Gene Variant Descriptions VHL Y112C lies within the CCT complex-binding region of the Vhl protein (UniProt.org). Y112C has been demonstrated to confer resistance to BET inhibitors in culture (PMID: 36329119), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance Y
Category Variants Paths

VHL mutant VHL Y112C

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Transcript NM_000551.4
gDNA chr3:g.10142182A>G
cDNA c.335A>G
Protein p.Y112C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_198156.3 chr3:g.10142182A>G c.335A>G p.Y112C RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142182A>G c.335A>G p.Y112C RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142182A>G c.335A>G p.Y112C RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142182A>G c.335A>G p.Y112C RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142182A>G c.335A>G p.Y112C RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142182A>G c.335A>G p.Y112C RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 )
  • 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
VHL Y112C leukemia resistant ARV-771 Preclinical - Cell culture Actionable In a preclinical study, a leukemia cell line demonstrated resistance to ARV-771 and was found to have acquired VHL Y112C in culture (PMID: 36329119). 36329119
VHL Y112C colon carcinoma resistant ARV-771 Preclinical - Cell culture Actionable In a preclinical study, a colon carcinoma cell line expressing VHL Y112C was resistant to ARV-771 in culture (PMID: 36329119). 36329119