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PTEN H118P - Gene Variant Detail

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Gene PTEN
Variant H118P
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN H118P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H118P demonstrates moderate loss of phosphatase activity in yeast and in an in-vitro assay (PMID: 21828076, PMID: 25527629), and reduced Pten protein stability (PMID: 25527629, PMID: 32350270), and fails to suppress Akt phosphorylation in cell culture, and delays developmental growth in flies (PMID: 32350270).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN H118P

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Transcript NM_000314.8
gDNA chr10:g.87933112A>C
cDNA c.353A>C
Protein p.H118P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87933112A>C c.353A>C p.H118P RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933112A>C c.353A>C p.H118P RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933112A>C c.353A>C p.H118P 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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