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Gene PTEN
Variant L194fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN L194fs results in a change in the amino acid sequence of the Pten protein beginning at aa 194 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L194fs has not been characterized, however, due to the effects of other truncation mutations downstream of L194 (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 L194fs

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Transcript NM_000314.8
gDNA chr10:g.(87952204_87952205)
cDNA c.(580_579)
Protein p.L194fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.(87952204_87952205) c.(580_579) p.L194fs RefSeq GRCh38/hg38

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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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • 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 L194fs thyroid cancer predicted - sensitive Ipilimumab + Nivolumab + Temsirolimus Case Reports/Case Series Actionable In a clinical case study, the addition of Torisel (temsirolimus) to the combination treatment of Yervoy (ipilimumab) and Opdivo (nivolumab) resulted in a partial response with a decrease in target lesion size in a patient with poorly differentiated thyroid cancer harboring PTEN L194fs, along with TP53 F270S, who remained on treatment for 6 months (PMID: 38356955). 38356955