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 | N12T |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN N12T lies within the lipid binding domain of the Pten protein (PMID: 25263454). N12T demonstrates reduced Pten protein stability and fails to suppress Akt phosphorylation in cell culture, and leads to impaired developmental growth in flies (PMID: 32350270), and results in increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN N12T |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864504A>C |
cDNA | c.35A>C |
Protein | p.N12T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87864504A>C | c.35A>C | p.N12T | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87864504A>C | c.35A>C | p.N12T | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87864504A>C | c.35A>C | p.N12T | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN N12T | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |