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Gene | PTEN |
Variant | K125N |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN K125N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K125N results in a loss of phosphatase activity in culture (PMID: 25873899), 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 K125N |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933134A>C |
cDNA | c.375A>C |
Protein | p.K125N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304718.2 | chr10:g.87961058A>C | c.375A>C | p.K125N | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933134A>C | c.375A>C | p.K125N | RefSeq | GRCh38/hg38 |
NM_001304718 | chr10:g.87961058A>C | c.375A>C | p.K125N | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933134A>C | c.375A>C | p.K125N | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933134A>C | c.375A>C | p.K125N | RefSeq | GRCh38/hg38 |
NM_001304718.1 | chr10:g.87961058A>C | c.375A>C | p.K125N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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