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Gene PTEN
Variant T319fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN T319fs results in a change in the amino acid sequence of the Pten protein beginning at aa 319 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). T319fs has not been characterized, however, due to the effects of other truncation mutations downstream of T319 (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 T319fs

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Transcript NM_000314.8
gDNA chr10:g.(87961046_87961047)
cDNA c.(955_954)
Protein p.T319fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.(87961046_87961047) c.(955_954) p.T319fs RefSeq GRCh38/hg38
NM_000314 chr10:g.87961046_87961047insTA c.954_955insTA p.T319fs*1 RefSeq GRCh38/hg38
NM_000314.8 chr10:g.(87961046_87961047) c.(955_954) p.T319fs 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
PTEN T319fs breast cancer sensitive BAY1125976 Preclinical - Cell culture Actionable In a preclinical study, BAY1125976 inhibited proliferation of a breast cancer cell line harboring PTEN T319fs*1 in culture (PMID: 27699769). 27699769