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Gene | PTEN |
Variant | L42P |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN L42P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L42P results in reduced phosphatase activity in yeast assays (PMID: 29706350, PMID: 25875300), 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 L42P |
Transcript | NM_000314.8 |
gDNA | chr10:g.87894070T>C |
cDNA | c.125T>C |
Protein | p.L42P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |