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Gene | PTEN |
Variant | N48K |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN N48K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). N48K results in a loss of Pten phosphatase activity as indicated by increased Akt phosphorylation in cell culture (PMID: 14675182, PMID: 25527629). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN N48K |
Transcript | NM_000314.8 |
gDNA | chr10:g.87894089C>G |
cDNA | c.144C>G |
Protein | p.N48K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87894089C>G | c.144C>G | p.N48K | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87894089C>G | c.144C>G | p.N48K | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87894089C>G | c.144C>G | p.N48K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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