Gene Variant Detail

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Gene PTEN
Variant E256K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN E256K lies within the C2 tensin-type domain of the Pten protein (UniProt.org). E256K results in suppression of Akt phosphorylation similar to wild-type Pten, however, demonstrates reduced Pten protein stability in cell culture, and leads to delayed developmental growth in flies (PMID: 32350270), but results in gain of Pten protein function in a Drosophila wing overgrowth assay (PMID: 34492006), and therefore, its effect on Pten protein function is unknown.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN E256K

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Transcript NM_000314.8
gDNA chr10:g.87957984G>A
cDNA c.766G>A
Protein p.E256K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87957984G>A c.766G>A p.E256K RefSeq GRCh38/hg38
NM_000314 chr10:g.87957984G>A c.766G>A p.E256K RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87957984G>A c.766G>A p.E256K 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