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| Gene | PTEN |
| Variant | R233Q |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | PTEN R233Q lies within the C2 tensin-type domain of the Pten protein (UniProt.org). R233Q has not been biochemically characterized, however, induces a similar gene expression signature as wild-type Pten in cell culture (PMID: 27147599), and therefore, is predicted to have no effect on Pten protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN R233Q |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87957916G>A |
| cDNA | c.698G>A |
| Protein | p.R233Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87957916G>A | c.698G>A | p.R233Q | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87957916G>A | c.698G>A | p.R233Q | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87957916G>A | c.698G>A | p.R233Q | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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