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Gene VHL
Variant E52fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL E52fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 52 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). E52fs has not been characterized, however, due to the effects of other truncation mutations downstream of E52 (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 E52fs

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Transcript NM_000551.4
gDNA chr3:g.(10142000_10142001)
cDNA c.(154_153)
Protein p.E52fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354723.1 chr3:g.(10142000_10142001) c.(154_153) p.E52fs RefSeq GRCh38/hg38
NM_000551 chr3:g.(10142000_10142001) c.(154_153) p.E52fs RefSeq GRCh38/hg38
NM_198156 chr3:g.(10142000_10142001) c.(154_153) p.E52fs RefSeq GRCh38/hg38
NM_198156.2 chr3:g.(10142000_10142001) c.(154_153) p.E52fs RefSeq GRCh38/hg38
NM_198156.3 chr3:g.(10142000_10142001) c.(154_153) p.E52fs RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.(10142000_10142001) c.(154_153) p.E52fs RefSeq GRCh38/hg38
NM_000551.4 chr3:g.(10142000_10142001) c.(154_153) p.E52fs RefSeq GRCh38/hg38
NM_000551.3 chr3:g.(10142000_10142001) c.(154_153) p.E52fs 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

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries