Gene Variant Detail

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Gene PTEN
Variant R173C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN R173C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R173C results in suppressed phosphorylation of Pdk1, Akt, and Gsk3beta similar to wild-type Pten in culture (PMID: 32704382), but confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302) and increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN R173C

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Transcript NM_000314.6
gDNA chr10:g.87952142C>T
cDNA c.517C>T
Protein p.R173C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87952142C>T c.517C>T p.R173C RefSeq GRCh38/hg38
NM_000314 chr10:g.87952142C>T c.517C>T p.R173C 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"

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  • 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