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Gene | PTEN |
Variant | N340H |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PTEN N340H lies within the C2 tensin-type domain and NOP53-interacting region of the Pten protein (UniProt.org). N340H 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 N340H |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961110A>C |
cDNA | c.1018A>C |
Protein | p.N340H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87961110A>C | c.1018A>C | p.N340H | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87961110A>C | c.1018A>C | p.N340H | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87961110A>C | c.1018A>C | p.N340H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN N340H | no effect |