VHL F76del
Gene Variant Detail

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Gene VHL
Variant F76del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions VHL F76del results in the deletion of an amino acid of the Vhl protein at amino acid 76 (UniProt.org). F76del results in a loss of Vhl protein function, as indicated by loss of binding to p220/240, HIF-1alpha, HIF-2alpha, and ElonginC and loss of normoxic suppression of HIF-2alpha in cell culture (PMID: 11331613).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL F76del

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Transcript NM_000551.4
gDNA chr3:g.10142074_10142076delTCT
cDNA c.227_229delTCT
Protein p.F76delF
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551 chr3:g.10142074_10142076delTCT c.227_229delTCT p.F76delF RefSeq GRCh38/hg38
NM_198156 chr3:g.10142074_10142076delTCT c.227_229delTCT p.F76delF RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142074_10142076delTCT c.227_229delTCT p.F76delF RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142074_10142076delTCT c.227_229delTCT p.F76delF RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142074_10142076delTCT c.227_229delTCT p.F76delF RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142074_10142076delTCT c.227_229delTCT p.F76delF RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142074_10142076delTCT c.227_229delTCT p.F76delF RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142074_10142076delTCT c.227_229delTCT p.F76delF 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.
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Molecular Profile Protein Effect Treatment Approaches
VHL F76del loss of function