PTEN H123Q
Gene Variant Detail

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Gene PTEN
Variant H123Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN H123Q lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H123Q demonstrates Pten protein stability similar to wild-type protein, however, fails to rescue spheroid formation in cell culture (PMID: 32366478), and demonstrates loss of phosphatase activity in a yeast assay (PMID: 21828076).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN H123Q

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Transcript NM_000314.8
gDNA chr10:g.87933128C>A
cDNA c.369C>A
Protein p.H123Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87933128C>A c.369C>A p.H123Q RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933128C>A c.369C>A p.H123Q RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933128C>A c.369C>A p.H123Q 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References