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Gene PTEN
Variant S380A
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN S380A does not lie within any known functional domains of the Pten protein (UniProt.org). S380A retains the ability to respond to PIP2, but demonstrates reduced lipid phosphatase activity (PMID: 17565999), decreased Pten protein stability and reduced Pten phosphorylation (PMID: 10866658, PMID: 11035045), loss of ability to undergo phosphorylation by Topk in an in vitro assay, and results in reduced mitotic entry and increased cell cycle arrest (PMID: 24012691, PMID: 10866658), increased nuclear and membrane localization (PMID: 16807353, PMID: 17565999), and increased transcriptional activation of FKHR in culture (PMID: 10866658), and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN S380A

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Transcript NM_000314.8
gDNA chr10:g.87965398T>G
cDNA c.1138T>G
Protein p.S380A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87965398T>G c.1138T>G p.S380A RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87965398T>G c.1138T>G p.S380A RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87952244_87952245delAGinsGC c.1138_1139delAGinsGC p.S380A 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 S380A unknown