Gene Variant Detail

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Gene PTEN
Variant H93Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN H93Q lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H93Q demonstrates Pten protein stability similar to wild-type protein (PMID: 32350270, PMID: 32366478), however, results in a partial loss of ability to rescue spheroid formation (PMID: 32366478), fails to suppress Akt phosphorylation in cell culture, and delays normal developmental growth in flies (PMID: 32350270), and demonstrates loss of phosphatase activity in yeast (PMID: 21828076).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN H93Q

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Transcript NM_000314.6
gDNA chr10:g.87933038T>A
cDNA c.279T>A
Protein p.H93Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87933038T>A c.279T>A p.H93Q RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933038T>A c.279T>A p.H93Q RefSeq GRCh38/hg38
NM_001304717.2 chr10:g.87864229T>A c.279T>A p.H93Q RefSeq GRCh38/hg38
NM_001304717 chr10:g.87864229T>A c.279T>A p.H93Q 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.
  • 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References