Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | PTEN |
Variant | G127R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN G127R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G127R demonstrates Pten protein stability similar to wild-type protein in one study (PMID: 32366478) and reduced protein stability in another study (PMID: 32350270), however, results in a loss of ability to rescue spheroid formation (PMID: 32366478), and fails to suppress Akt phosphorylation in cell culture, and delays development in flies (PMID: 32350270), increased transformation ability in two different cell lines (PMID: 29533785), and results in a gene expression profile similar to G129E loss of function mutation (PMID: 27147599). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN G127R |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933138G>A |
cDNA | c.379G>A |
Protein | p.G127R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933138G>A | c.379G>A | p.G127R | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933138G>A | c.379G>A | p.G127R | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933138G>A | c.379G>A | p.G127R | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN G127R | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |