Gene Variant Detail

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Gene VHL
Variant E70_R79dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions VHL E70_R79dup indicates the insertion of ten duplicate amino acids, glutamic acid (E)-70 through arginine (R)-79, in the Vhl protein (UniProt.org). E70_R79dup has not been characterized in the scientific literature and therefore, its effect on Vhl protein function is unknown (PubMed, Jun 2024).
Associated Drug Resistance
Category Variants Paths

VHL mutant VHL E70_R79dup

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Transcript NM_000551.4
gDNA chr3:g.10142055_10142084
cDNA c.208_237
Protein p.E70_R79
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_198156.3 chr3:g.10142055_10142084 c.208_237 p.E70_R79 RefSeq GRCh38/hg38
NM_198156 chr3:g.10142084_10142085insGAGCCTAGCCAAGTAATCTTTTGTAACAGG c.237_238insGAGCCTAGCCAAGTAATCTTTTGTAACAGG p.E70_R79dup RefSeq GRCh38/hg38
NM_000551.4 chr3:g.10142055_10142084 c.208_237 p.E70_R79 RefSeq GRCh38/hg38
NM_000551 chr3:g.10142084_10142085insGAGCCTAGCCAAGTAATCTTTTGTAACAGG c.237_238insGAGCCTAGCCAAGTAATCTTTTGTAACAGG p.E70_R79dup RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142055_10142084 c.208_237 p.E70_R79 RefSeq GRCh38/hg38

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  • 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")

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