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Gene | PTEN |
Variant | L182P |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN L182P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L182P 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 L182P |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952169_87952170delTTinsCC |
cDNA | c.544_545delTTinsCC |
Protein | p.L182P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87952169_87952170delTTinsCC | c.544_545delTTinsCC | p.L182P | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87952169_87952170delTTinsCC | c.544_545delTTinsCC | p.L182P | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN L182P | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |