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Gene | PTEN |
Variant | D162H |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PTEN D162H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D162H demonstrates protein stability and inhibition of Akt signaling, similar to levels of wild-type Pten protein in cell culture (PMID: 23840064). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN D162H |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933243G>C |
cDNA | c.484G>C |
Protein | p.D162H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933243G>C | c.484G>C | p.D162H | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933243G>C | c.484G>C | p.D162H | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933243G>C | c.484G>C | p.D162H | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN D162H | no effect |