Gene Variant Detail

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Gene VHL
Variant V130F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions VHL V130F lies within the CCT complex-binding region of the Vhl protein (UniProt.org). V130F is predicted to lead to destabilizing of Vhl by computational modeling (PMID: 19408289), but has not been biochemically characterized and therefore, its effect on Vhl protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL V130F

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Transcript NM_000551.4
gDNA chr3:g.10146561G>T
cDNA c.388G>T
Protein p.V130F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.4 chr3:g.10146561G>T c.388G>T p.V130F RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10146561G>T c.388G>T p.V130F RefSeq GRCh38/hg38
NM_000551 chr3:g.10146561G>T c.388G>T p.V130F 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 V130F unknown