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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_000314.8 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_000314 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
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

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