PTEN L320* - Gene Variant Detail

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Gene PTEN
Variant L320*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN L320* results in a premature truncation of the Pten protein at amino acid 320 of 403 (UniProt.org). L320* has not been characterized, however, due to the effects of other truncation mutations downstream of L320 (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 L320*

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Transcript NM_000314.8
gDNA chr10:g.87961051T>A
cDNA c.959T>A
Protein p.L320*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87961051T>A c.959T>A p.L320* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PTEN L320* endometrial cancer sensitive TAS0612 Preclinical - Cell line xenograft Actionable In a preclinical study, TAS0612 inhibited proliferation in an endometrial cancer cell line harboring PTEN L320* along with ERBB2 (HER2) R896H and FGFR2 S252W in culture and induced tumor regression in a cell line xenograft model (PMID: 37906695). 37906695