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Gene | PTEN |
Variant | D24V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN D24V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D24V confers a loss of Pten protein function as demonstrated by reduced phosphatase activity in a yeast assay (PMID: 29706350) and increased phosphorylation of Akt and S6rp in culture (PMID: 24498881). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN D24V |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864540A>T |
cDNA | c.71A>T |
Protein | p.D24V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87864540A>T | c.71A>T | p.D24V | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87864540A>T | c.71A>T | p.D24V | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864540A>T | c.71A>T | p.D24V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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