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Gene | PTEN |
Variant | G129V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN G129V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G129V confers a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity in yeast (PMID: 21828076) and induction of a gene expression signature distinct from wild-type Pten (PMID: 27147599). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN G129V |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933145G>T |
cDNA | c.386G>T |
Protein | p.G129V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933145G>T | c.386G>T | p.G129V | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933145G>T | c.386G>T | p.G129V | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933145G>T | c.386G>T | p.G129V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN G129V | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |