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Gene | PTEN |
Variant | A126P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN A126P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A126P demonstrates loss of phosphatase activity (PMID: 26504226) and reduced Pten protein stability, and fails to suppress Akt phosphorylation in cell culture, and delays developmental growth in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN A126P |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933135G>C |
cDNA | c.376G>C |
Protein | p.A126P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304717.5 | chr10:g.87864326G>C | c.376G>C | p.A126P | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933135G>C | c.376G>C | p.A126P | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933135G>C | c.376G>C | p.A126P | RefSeq | GRCh38/hg38 |
NM_001304717.2 | chr10:g.87864326G>C | c.376G>C | p.A126P | RefSeq | GRCh38/hg38 |
NM_001304717 | chr10:g.87864326G>C | c.376G>C | p.A126P | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933135G>C | c.376G>C | p.A126P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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