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Gene PTEN
Variant N323fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN N323fs results in a change in the amino acid sequence of the Pten protein beginning at aa 323 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). N323fs has not been characterized, however, due to the effects of other truncation mutations downstream of N323 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN N323fs

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Transcript NM_000314.8
gDNA chr10:g.(87961058_87961059)
cDNA c.(967_966)
Protein p.N323fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.(87961058_87961059) c.(967_966) p.N323fs RefSeq GRCh38/hg38
NM_000314.8 chr10:g.(87961058_87961059) c.(967_966) p.N323fs RefSeq GRCh38/hg38
NM_000314 chr10:g.87961054_87961055insT c.962_963insT p.N323fs*2 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PTEN N323fs castration-resistant prostate carcinoma predicted - sensitive Everolimus Case Reports/Case Series Actionable In a clinical case study, Afinitor (everolimus) treatment resulted in stable disease for eight months in a patient with castration-resistant prostate cancer harboring PTEN N323fs*21 who had previously progressed on several lines of therapy (PMID: 32399016). 32399016