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Gene | PTEN |
Variant | T78A |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PTEN T78A lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). T78A results in minimal colony formation in yeast (PMID: 32471850), and Pten protein stability and suppression of Akt phosphorylation similar to wild-type Pten in cell culture, and leads to normal developmental growth in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN T78A |
Transcript | NM_000314.8 |
gDNA | chr10:g.87931068A>G |
cDNA | c.232A>G |
Protein | p.T78A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87931068A>G | c.232A>G | p.T78A | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87931068A>G | c.232A>G | p.T78A | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87931068A>G | c.232A>G | p.T78A | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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