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Gene | PTEN |
Variant | D24Y |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN D24Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D24Y confers a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity and reduced nuclear localization in cell culture (PMID: 25875300, PMID: 17213812). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN D24Y |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864539G>T |
cDNA | c.70G>T |
Protein | p.D24Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87864539G>T | c.70G>T | p.D24Y | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87864539G>T | c.70G>T | p.D24Y | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87864539G>T | c.70G>T | p.D24Y | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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