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Gene Variant Detail

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Gene PTEN
Variant N94I
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN N94I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). N94I results in loss of phosphatase activity in yeast (PMID: 21828076), and therefore, is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN N94I

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Transcript NM_000314.8
gDNA chr10:g.87933040A>T
cDNA c.281A>T
Protein p.N94I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87933040A>T c.281A>T p.N94I RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933040A>T c.281A>T p.N94I RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933040A>T c.281A>T p.N94I RefSeq GRCh38/hg38

Filtering

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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")

Sorting

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