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Gene | PTEN |
Variant | D252Y |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN D252Y lies within the C2 tensin-type domain of the Pten protein (UniProt.org). D252Y results in reduced phosphatase activity in a yeast assay (PMID: 29706350) and reduced stability of the Pten protein resulting in decreased expression in culture (PMID: 17942903). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN D252Y |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957972G>T |
cDNA | c.754G>T |
Protein | p.D252Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87957972G>T | c.754G>T | p.D252Y | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957972G>T | c.754G>T | p.D252Y | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87957972G>T | c.754G>T | p.D252Y | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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