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Gene | PTEN |
Variant | D301N |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PTEN D301N lies within the C2 tensin-type domain of the Pten protein (UniProt.org). D301N demonstrates inhibition of Akt phosphorylation similar to wild-type Pten in cell culture (PMID: 19329485), and therefore, is predicted to have no effect on Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN D301N |
Transcript | NM_000314.8 |
gDNA | chr10:g.87960993G>A |
cDNA | c.901G>A |
Protein | p.D301N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87960993G>A | c.901G>A | p.D301N | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87960993G>A | c.901G>A | p.D301N | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87960993G>A | c.901G>A | p.D301N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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