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Gene PTEN
Variant T348I
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN T348I lies within the C2 tensin-type domain and NOP53-interacting region of the Pten protein (UniProt.org). T348I results in decreased phosphatase activity in an in vitro assay, and increased Pten degradation, increased Akt phosphorylation, and partial reduction in the inhibition of transformation relative to wild-type Pten in cultured cells (PMID: 10468583).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN T348I

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Transcript NM_000314.8
gDNA chr10:g.87965303C>T
cDNA c.1043C>T
Protein p.T348I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87965303C>T c.1043C>T p.T348I RefSeq GRCh38/hg38
NM_000314 chr10:g.87965303C>T c.1043C>T p.T348I RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87965303C>T c.1043C>T p.T348I 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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References