VHL R79_S80del - Gene Variant Detail

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Gene VHL
Variant R79_S80del
Impact List deletion
Protein Effect unknown
Gene Variant Descriptions VHL R79_S80del results in the deletion of two amino acids of the Vhl protein from amino acids 79 to 80 (UniProt.org). R79_S80del 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 R79_S80del

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Transcript NM_000551.4
gDNA chr3:g.10142083_10142088delGCAGTC
cDNA c.236_241delGCAGTC
Protein p.R79_S80delRS
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000551.4 chr3:g.10142083_10142088delGCAGTC c.236_241delGCAGTC p.R79_S80delRS RefSeq GRCh38/hg38
NM_001354723.1 chr3:g.10142083_10142088delGCAGTC c.236_241delGCAGTC p.R79_S80del RefSeq GRCh38/hg38
NM_001354723.2 chr3:g.10142083_10142088delGCAGTC c.236_241delGCAGTC p.R79_S80delRS RefSeq GRCh38/hg38
NM_000551.3 chr3:g.10142083_10142088delGCAGTC c.236_241delGCAGTC p.R79_S80del RefSeq GRCh38/hg38
NM_198156.3 chr3:g.10142083_10142088delGCAGTC c.236_241delGCAGTC p.R79_S80delRS RefSeq GRCh38/hg38
NM_198156.2 chr3:g.10142083_10142088delGCAGTC c.236_241delGCAGTC p.R79_S80del 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
VHL R79_S80del unknown