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Gene | PTEN |
Variant | L325F |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN L325F lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L325F results in a loss of phosphatase activity through failure to inhibit Akt phosphorylation in cell culture (PMID: 19329485), 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 L325F |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961065C>T |
cDNA | c.973C>T |
Protein | p.L325F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |