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Gene | PTEN |
Variant | D24H |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN D24H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D24H results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and results in abnormal cellular localization and loss of PI3K/AKT/MTOR pathway inhibition, as indicated by increased expression of S6rp in patient samples (PMID: 30626916), and therefore, is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN D24H |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864539G>C |
cDNA | c.70G>C |
Protein | p.D24H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87864539G>C | c.70G>C | p.D24H | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87864539G>C | c.70G>C | p.D24H | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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