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Gene VHL
Variant L116fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions VHL L116fs results in a change in the amino acid sequence of the Vhl protein beginning at aa 116 of 213, likely resulting in premature truncation of the functional protein (UniProt.org). L116fs has not been characterized, however, due to the effects of other truncation mutations downstream of L116 (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 L116fs

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Transcript NM_000551.4
gDNA chr3:g.(10146518_10146519)
cDNA c.(346_345)
Protein p.L116fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551 chr3:g.(10146518_10146519) c.(346_345) p.L116fs RefSeq GRCh38/hg38
NM_000551.4 chr3:g.(10146518_10146519) c.(346_345) p.L116fs RefSeq GRCh38/hg38
NM_000551.3 chr3:g.(10146518_10146519) c.(346_345) p.L116fs 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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References