Gene Variant Detail

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Gene PTEN
Variant P354Q
Impact List missense
Protein Effect no effect
Gene Variant Descriptions PTEN P354Q does not lie within any known functional domains of the Pten protein (UniProt.org). P354Q demonstrates ability to rescue spheroid formation (PMID: 32366478), Pten protein stability (PMID: 32350270, PMID: 32366478), and Akt phosphorylation similar to wild-type Pten in cell culture, and results in normal developmental growth in flies (PMID: 32350270).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN P354Q

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Transcript NM_000314.8
gDNA chr10:g.87965321C>A
cDNA c.1061C>A
Protein p.P354Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87965321C>A c.1061C>A p.P354Q RefSeq GRCh38/hg38
NM_000314 chr10:g.87965321C>A c.1061C>A p.P354Q RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87965321C>A c.1061C>A p.P354Q 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 )
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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