Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene PTEN
Variant Q171E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN Q171E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Q171E demonstrates Pten protein stability similar to wild-type protein in one study (PMID: 32366478) and reduced protein stability in another study (PMID: 32350270), however, results in a partial loss of ability to rescue spheroid formation (PMID: 32366478), and fails to suppress Akt phosphorylation in cell culture, and leads to developmental delay in flies (PMID: 32350270).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN Q171E

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.

Transcript NM_000314.8
gDNA chr10:g.87952136C>G
cDNA c.511C>G
Protein p.Q171E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87952136C>G c.511C>G p.Q171E RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87952136C>G c.511C>G p.Q171E RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87952136C>G c.511C>G p.Q171E 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 Q171E loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor