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Gene | PTEN |
Variant | L112P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN L112P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L112P results in a loss of Pten phosphatase activity and is unable to suppress Akt activation in cell culture (PMID: 10866302, PMID: 25527629). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN L112P |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933094T>C |
cDNA | c.335T>C |
Protein | p.L112P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |