Gene Variant Detail

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Gene PTEN
Variant L345V
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions PTEN L345V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L345V demonstrates reduced Pten protein stability and leads to impaired developmental growth in flies, but demonstrates suppression of Akt phosphorylation similar to wild-type Pten in cell culture (PMID: 32350270), and shows phosphatase activity and growth similar to wild-type Pten in yeast (PMID: 25448481, PMID: 21828076), and therefore, is predicted to have no effect on Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN L345V

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Transcript NM_000314.8
gDNA chr10:g.87965293C>G
cDNA c.1033C>G
Protein p.L345V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87965293C>G c.1033C>G p.L345V RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87965293C>G c.1033C>G p.L345V RefSeq GRCh38/hg38
NM_000314 chr10:g.87965293C>G c.1033C>G p.L345V 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 Protein Effect Treatment Approaches
PTEN L345V no effect - predicted