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Gene | PTEN |
Variant | V54del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN V54del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 54 (UniProt.org). V54del results in reduced phosphatase activity in a yeast assay (PMID: 29706350), 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 V54del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87894105_87894107delGTA |
cDNA | c.160_162delGTA |
Protein | p.V54delV |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87894105_87894107delGTA | c.160_162delGTA | p.V54del | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864110_87864112delATC | c.160_162delATC | p.I54delI | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87894105_87894107delGTA | c.160_162delGTA | p.V54delV | RefSeq | GRCh38/hg38 |
NM_001304718.2 | chr10:g.87957970_87957972delGTG | c.161_163delGTG | p.G54delG | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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