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 |
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_001304717 | chr10:g.87864327_87864328delCGinsAC | c.377_378delCGinsAC | p.A126D | RefSeq | GRCh38/hg38 |
NM_001304717.2 | chr10:g.87864327_87864328delCGinsAC | c.377_378delCGinsAC | p.A126D | RefSeq | GRCh38/hg38 |
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_001304717.5 | 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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN A126D | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |