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Gene PTEN
Variant L42R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN L42R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L42R demonstrates phosphatase activity comparable to wild-type Pten however, L42R results in reduced membrane localization of the Pten protein due to impaired binding with membrane lipids (PMID: 25448479, PMID: 25263454) and subsequently, is unable to prevent Akt signaling, cell proliferation, and cell migration and therefore, confers a loss of function to the Pten protein (PMID: 25263454).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN L42R

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Transcript NM_000314.8
gDNA chr10:g.87894070T>G
cDNA c.125T>G
Protein p.L42R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87894070T>G c.125T>G p.L42R RefSeq GRCh38/hg38
NM_001304717 chr10:g.87864074T>G c.125T>G p.L42R RefSeq GRCh38/hg38
NM_001304717.2 chr10:g.87864074T>G c.125T>G p.L42R RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864074T>G c.125T>G p.L42R RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87894070T>G c.125T>G p.L42R RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87894070T>G c.125T>G p.L42R 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 Protein Effect Treatment Approaches
PTEN L42R loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor