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Gene | PTEN |
Variant | K402N |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PTEN K402N lies within the PDZ domain-binding region of the Pten protein (UniProt.org). K402N demonstrates Pten protein stability and suppression of Akt phosphorylation similar to wild-type Pten in cell culture (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN K402N |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965466A>C |
cDNA | c.1206A>C |
Protein | p.K402N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87965466A>C | c.1206A>C | p.K402N | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965466A>C | c.1206A>C | p.K402N | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965466A>C | c.1206A>C | p.K402N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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