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| Gene | PTEN |
| Variant | D92A |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN D92A lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D92A results in a loss of Pten phosphatase activity in yeast (PMID: 21828076) and demonstrates impaired dephosphorylation of FAK in cell culture (PMID: 10400703). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN D92A |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933034A>C |
| cDNA | c.275A>C |
| Protein | p.D92A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87933034A>C | c.275A>C | p.D92A | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87933034A>C | c.275A>C | p.D92A | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87933034A>C | c.275A>C | p.D92A | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| PTEN D92A | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |