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Gene | PTEN |
Variant | D22E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN D22E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D22E 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 D22E |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864535C>G |
cDNA | c.66C>G |
Protein | p.D22E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87864535C>G | c.66C>G | p.D22E | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864535C>G | c.66C>G | p.D22E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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