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Gene | PTEN |
Variant | A309S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN A309S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). A309S demonstrates Pten protein stability and suppression of Akt phosphorylation similar to wild-type Pten in cell culture, however, leads to impaired developmental growth in flies (PMID: 32350270), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN A309S |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961017G>T |
cDNA | c.925G>T |
Protein | p.A309S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87961017G>T | c.925G>T | p.A309S | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87961017G>T | c.925G>T | p.A309S | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87961017G>T | c.925G>T | p.A309S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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