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| Gene | PTEN |
| Variant | F241S |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN F241S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). F241S demonstrates loss of phosphatase activity (PMID: 21828076, PMID: 29373119), and decreased nuclear localization (PMID: 29373119), and reduced Pten protein stability, and fails to suppress Akt phosphorylation in cell culture, and delays developmental growth in flies (PMID: 32350270). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN F241S |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87957940T>C |
| cDNA | c.722T>C |
| Protein | p.F241S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.8 | chr10:g.87957940T>C | c.722T>C | p.F241S | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87957940T>C | c.722T>C | p.F241S | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87957940T>C | c.722T>C | p.F241S | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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