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Gene PTEN
Variant C105Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN C105Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C105Y results in a loss of Lkb1 binding in the context of an N-terminal truncated Pten protein in a yeast two-hybrid assay (PMID: 15987703), and reduced lipid and protein phosphatase activities of Pten in an in vitro assays (PMID: 34561453).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN C105Y

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Transcript NM_000314.8
gDNA chr10:g.87933073G>A
cDNA c.314G>A
Protein p.C105Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87933073G>A c.314G>A p.C105Y RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933073G>A c.314G>A p.C105Y RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933073G>A c.314G>A p.C105Y 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")

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