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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 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87894070T>C | c.125T>C | p.L42P | RefSeq | GRCh38/hg38 |
NM_001304717.2 | chr10:g.87864074T>C | c.125T>C | p.L42P | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864074T>C | c.125T>C | p.L42P | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87894070T>C | c.125T>C | p.L42P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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