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Gene | PTEN |
Variant | R15I |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN R15I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R15I confers a loss of Pten protein function as demonstrated by loss of phosphatase activity and impaired nuclear localization in yeast (PMID: 25875300, PMID: 29706350). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN R15I |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864513G>T |
cDNA | c.44G>T |
Protein | p.R15I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87864513G>T | c.44G>T | p.R15I | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87864513G>T | c.44G>T | p.R15I | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87864513G>T | c.44G>T | p.R15I | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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