Gene Variant Detail

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Gene PTEN
Variant V45del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN V45del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 45 (UniProt.org). V45del results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN V45del

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Transcript NM_000314.6
gDNA chr10:g.87894078_87894080delGTA
cDNA c.133_135delGTA
Protein p.V45del
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87894078_87894080delGTA c.133_135delGTA p.V45del RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References