PTEN N48I - Gene Variant Detail

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Gene PTEN
Variant N48I
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN N48I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). N48I 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 N48I

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Transcript NM_000314.8
gDNA chr10:g.87894088A>T
cDNA c.143A>T
Protein p.N48I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87894088A>T c.143A>T p.N48I RefSeq GRCh38/hg38
NM_000314 chr10:g.87894088A>T c.143A>T p.N48I RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87894088A>T c.143A>T p.N48I 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PTEN N48I urinary bladder cancer decreased response Pictilisib Preclinical - Cell culture Actionable In a preclinical study, Pictilisib (GDC-0941) demonstrated limited inhibition of Akt phosphorylation and growth in bladder cancer cells harboring PTEN N48I in culture (PMID: 28808038). 28808038