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Gene | PTEN |
Variant | D107V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN D107V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D107V demonstrates reduced Pten protein stability and fails to suppress Akt phosphorylation in cell culture, and leads to impaired developmental growth in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN D107V |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933079A>T |
cDNA | c.320A>T |
Protein | p.D107V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933079A>T | c.320A>T | p.D107V | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933079A>T | c.320A>T | p.D107V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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