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Gene | PTEN |
Variant | A121P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN A121P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A121P demonstrates loss of phosphatase activity in an in-vitro assay (PMID: 10866302) and reduced Pten protein stability, 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 A121P |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933120G>C |
cDNA | c.361G>C |
Protein | p.A121P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933120G>C | c.361G>C | p.A121P | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933120G>C | c.361G>C | p.A121P | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933120G>C | c.361G>C | p.A121P | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN A121P | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |