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Gene | PTEN |
Variant | G165R |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN G165R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G165R results in suppression of Akt signaling similar to wild-type Pten in cell culture (PMID: 32704382), but results in a loss of phosphatase activity in an in vitro assay and a yeast assay (PMID: 10866302, PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN G165R |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952118G>A |
cDNA | c.493G>A |
Protein | p.G165R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87952118G>A | c.493G>A | p.G165R | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87952118G>A | c.493G>A | p.G165R | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87952118G>A | c.493G>A | p.G165R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN G165R | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |