Gene Variant Detail

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Gene PTEN
Variant K125E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN K125E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K125E results in a loss of Pten phosphatase activity, decreased p53 transcriptional activity, and increased cell proliferation in culture (PMID: 21828076, PMID: 19457929, PMID: 20926450).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN K125E

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Transcript NM_000314.8
gDNA chr10:g.87933132A>G
cDNA c.373A>G
Protein p.K125E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87933132A>G c.373A>G p.K125E RefSeq GRCh38/hg38
NM_001304718.2 chr10:g.87961056A>G c.373A>G p.K125E RefSeq GRCh38/hg38
NM_001304718 chr10:g.87961056A>G c.373A>G p.K125E RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933132A>G c.373A>G p.K125E RefSeq GRCh38/hg38
NM_001304718.1 chr10:g.87961056A>G c.373A>G p.K125E RefSeq GRCh38/hg38
NM_000314 chr10:g.87933132A>G c.373A>G p.K125E RefSeq GRCh38/hg38

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  • 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References