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Gene | PTEN |
Variant | F271S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN F271S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). F271S confers a loss of Pten protein function as demonstrated by reduced phosphatase activity in a yeast assay (PMID: 29706350) and failure to suppress E2f1-mediated transcription in cultured cells (PMID: 29108454). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN F271S |
Transcript | NM_000314.8 |
gDNA | chr10:g.87960904T>C |
cDNA | c.812T>C |
Protein | p.F271S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87960904T>C | c.812T>C | p.F271S | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87960904T>C | c.812T>C | p.F271S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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