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Gene | PTEN |
Variant | L295V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN L295V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L295V demonstrates Pten protein stability and suppression of Akt phosphorylation similar to wild-type Pten in cell culture, however, leads to impaired developmental growth in flies (PMID: 32350270), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN L295V |
Transcript | NM_000314.8 |
gDNA | chr10:g.87960975C>G |
cDNA | c.883C>G |
Protein | p.L295V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87960975C>G | c.883C>G | p.L295V | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87960975C>G | c.883C>G | p.L295V | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87960975C>G | c.883C>G | p.L295V | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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