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Gene PTEN
Variant I135V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN I135V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I135V demonstrates Pten protein stability (PMID: 32350270, PMID: 32366478), and Akt phosphorylation (PMID: 32350270) similar to wild-type Pten, however, results in an intermediate ability to rescue spheroid formation in cell culture (PMID: 32366478), and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN I135V

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Transcript NM_000314.8
gDNA chr10:g.87933162A>G
cDNA c.403A>G
Protein p.I135V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87933162A>G c.403A>G p.I135V RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933162A>G c.403A>G p.I135V RefSeq GRCh38/hg38
NM_000314 chr10:g.87933162A>G c.403A>G p.I135V RefSeq GRCh38/hg38

Filtering

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  • 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 )
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  • 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