Gene Variant Detail

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Gene VHL
Variant E70*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL E70* results in a premature truncation of the Vhl protein at amino acid 70 of 213 (UniProt.org). E70* has not been characterized, however, due to the effects of other truncation mutations downstream of E70 (PMID: 14691445), is predicted to lead to a loss of Vhl protein function.
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL inact mut VHL E70*

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Transcript NM_000551.4
gDNA chr3:g.10142055G>T
cDNA c.208G>T
Protein p.E70*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_198156.2 chr3:g.10142055G>T c.208G>T p.E70* RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142055G>T c.208G>T p.E70* RefSeq GRCh38/hg38
NM_000551 chr3:g.10142055G>T c.208G>T p.E70* RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142055G>T c.208G>T p.E70* RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142055G>T c.208G>T p.E70* RefSeq GRCh38/hg38
NM_198156 chr3:g.10142055G>T c.208G>T p.E70* RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142055G>T c.208G>T p.E70* RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142055G>T c.208G>T p.E70* RefSeq GRCh38/hg38

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  • 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

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