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Gene PTEN
Variant Q245*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN Q245* results in a premature truncation of the Pten protein at amino acid 245 of 403 (UniProt.org). Q245* results in reduced phosphatase activity in a yeast assay (PMID: 29706350), 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 Q245*

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Transcript NM_000314.8
gDNA chr10:g.87957951C>T
cDNA c.733C>T
Protein p.Q245*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87957951C>T c.733C>T p.Q245* RefSeq GRCh38/hg38
NM_000314 chr10:g.87957951C>T c.733C>T p.Q245* RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87957951C>T c.733C>T p.Q245* 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
PTEN Q245* lung squamous cell carcinoma sensitive Buparlisib + Carboplatin + Paclitaxel Preclinical - Pdx Actionable In a preclinical study, the addition of Buparlisib (BKM120) to treatment with the combination of Paraplatin (carboplatin) and Taxol (paclitaxel) resulted in improved tumor growth inhibition compared to chemotherapy or Buparlisib (BKM120) alone in a patient-derived xenograft (PDX) model of squamous non-small cell lung cancer harboring PTEN Q245* (PMID: 39199558). 39199558
PTEN Q245* lung squamous cell carcinoma sensitive Carboplatin + Paclitaxel + Vistusertib Preclinical - Pdx Actionable In a preclinical study, the addition of Vistusertib (AZD2014) to treatment with the combination of Paraplatin (carboplatin) and Taxol (paclitaxel) resulted in improved tumor growth inhibition compared to chemotherapy or Buparlisib (BKM120) alone in a patient-derived xenograft (PDX) model of squamous non-small cell lung cancer harboring PTEN Q245* (PMID: 39199558). 39199558