PTEN R130Q
Gene Variant Detail

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Gene PTEN
Variant R130Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN R130Q lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R130Q demonstrates Pten protein stability similar to wild-type protein, however, results in a partial loss of ability to rescue spheroid formation (PMID: 32366478), loss of phosphatase activity (PMID: 10866302), and increased transformation ability in two different cell lines in culture (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN R130Q

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Transcript NM_000314.8
gDNA chr10:g.87933148G>A
cDNA c.389G>A
Protein p.R130Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87933148G>A c.389G>A p.R130Q RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933148G>A c.389G>A p.R130Q RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933148G>A c.389G>A p.R130Q 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 R130Q loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs