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Gene | PTEN |
Variant | V255A |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN V255A lies within the C2 tensin-type domain of the Pten protein (UniProt.org). V255A demonstrates reduced phosphatase activity in an in vitro assay (PMID: 10340391), decreased 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 V255A |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957982T>C |
cDNA | c.764T>C |
Protein | p.V255A |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87957982T>C | c.764T>C | p.V255A | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957982T>C | c.764T>C | p.V255A | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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