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Gene | PTEN |
Variant | D109N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN D109N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D109N retains Akt phosphorylation and results in mRNA expression similar to wild-type Pten but demonstrates reduced protein expression in a patient sample in the context of a G36R mutation (PMID: 36591942), but has not been individually characterized, and therefore, its effect on protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN D109N |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933084G>A |
cDNA | c.325G>A |
Protein | p.D109N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933084G>A | c.325G>A | p.D109N | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN D109N | unknown |