Gene Variant Detail

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Gene VHL
Variant H110Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions VHL H110Q lies within the CCT complex-binding region of the Vhl protein (UniProt.org). H110Q has been identified in the scientific literature (PMID: 12781449), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL H110Q

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Transcript NM_000551.4
gDNA chr3:g.10142177C>A
cDNA c.330C>A
Protein p.H110Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354723.1 chr3:g.10142177C>A c.330C>A p.H110Q RefSeq GRCh38/hg38
NM_000551 chr3:g.10142177C>A c.330C>A p.H110Q RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142177C>A c.330C>A p.H110Q RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142177C>A c.330C>A p.H110Q RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142177C>A c.330C>A p.H110Q RefSeq GRCh38/hg38
NM_198156 chr3:g.10142177C>A c.330C>A p.H110Q RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142177C>A c.330C>A p.H110Q RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142177C>A c.330C>A p.H110Q 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
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
VHL H110Q unknown