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Gene | PTEN |
Variant | C136Y |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN C136Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C136Y confers a loss of Pten protein function as demonstrated by loss of phosphatase activity in an in vitro assay and a yeast assay (PMID: 10866302, PMID: 29706350), and failure to suppress phosphorylation of Pdk1, Akt, and Gsk3beta in cultured cells (PMID: 32704382). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN C136Y |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933166G>A |
cDNA | c.407G>A |
Protein | p.C136Y |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933166G>A | c.407G>A | p.C136Y | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933166G>A | c.407G>A | p.C136Y | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933166G>A | c.407G>A | p.C136Y | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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