Starting April 21, you’ll be asked to log in or sign up for a free account after viewing 10 content pages each month.
Don’t worry—creating an account is quick and easy, and it comes with added benefits! Once logged in, you’ll not only continue accessing the content you already enjoy, but you’ll also unlock exclusive features like interactive donut plots for variant protein effects and variant impacts across the gene.
Stay tuned for these updates, and thank you for being part of our community!
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 | Y27D |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN Y27D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y27D has not been biochemically characterized, but results in increased transformation ability in two different cell lines (PMID: 29533785), and therefore, is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN Y27D |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864548T>G |
cDNA | c.79T>G |
Protein | p.Y27D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87864548T>G | c.79T>G | p.Y27D | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864548T>G | c.79T>G | p.Y27D | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87864548T>G | c.79T>G | p.Y27D | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN Y27D | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |