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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_000314.6 | chr10:g.87864504A>C | c.35A>C | p.N12T | RefSeq | GRCh38/hg38 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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