PTEN Y27C
Gene Variant Detail

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Gene PTEN
Variant Y27C
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN Y27C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y27C demonstrates reduced Pten protein stability, and fails to suppress Akt phosphorylation in cell culture, and delays developmental growth in flies (PMID: 32350270), and has been associated with resistance to Egfr inhibitors as a secondary resistance mutation in cell culture (PMID: 26181354, PMID: 29325035).
Associated Drug Resistance Y
Category Variants Paths

PTEN mutant PTEN inact mut PTEN Y27C

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Transcript NM_000314.8
gDNA chr10:g.87894025A>G
cDNA c.80A>G
Protein p.Y27C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87894025A>G c.80A>G p.Y27C RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87894025A>G c.80A>G p.Y27C RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87894025A>G c.80A>G p.Y27C 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