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 A126D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN A126D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A126D demonstrates Pten protein stability similar to wild-type protein (PMID: 32366478, PMID: 32350270), however, results in a loss of phosphatase activity in yeast (PMID: 21828076), loss of ability to rescue spheroid formation (PMID: 32366478), and fails to suppress Akt phosphorylation in cell culture, and delays developmental growth in flies (PMID: 32350270), and is associated with homologous recombination deficiency in a patient sample (PMID: 29246904).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN A126D

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.87933136C>A
cDNA c.377C>A
Protein p.A126D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87933136C>A c.377C>A p.A126D RefSeq GRCh38/hg38
NM_000314 chr10:g.87933136C>A c.377C>A p.A126D RefSeq GRCh38/hg38
NM_001304717.2 chr10:g.87864327_87864328delCGinsAC c.377_378delCGinsAC p.A126D RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933136C>A c.377C>A p.A126D RefSeq GRCh38/hg38
NM_001304717 chr10:g.87864327_87864328delCGinsAC c.377_378delCGinsAC p.A126D RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864327_87864328delCGinsAC c.377_378delCGinsAC p.A126D 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 A126D loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor