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Gene | PTEN |
Variant | N48I |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN N48I lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). N48I results in reduced phosphatase activity in a yeast assay (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 N48I |
Transcript | NM_000314.8 |
gDNA | chr10:g.87894088A>T |
cDNA | c.143A>T |
Protein | p.N48I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87894088A>T | c.143A>T | p.N48I | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87894088A>T | c.143A>T | p.N48I | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87894088A>T | c.143A>T | p.N48I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN N48I | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |