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Gene | PTEN |
Variant | R14G |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN R14G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R14G demonstrates Pten protein stability similar to wild-type protein (PMID: 32350270), however, results in a loss of Pip3 phosphatase activity in yeast (PMID: 29706633), and fails to suppress Akt phosphorylation in cell culture, and delays developmental growth in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN R14G |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864509A>G |
cDNA | c.40A>G |
Protein | p.R14G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87864509A>G | c.40A>G | p.R14G | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864509A>G | c.40A>G | p.R14G | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87864509A>G | c.40A>G | p.R14G | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN R14G | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |