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Gene | PTEN |
Variant | Y174N |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN Y174N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y174N results in a loss of Pten phosphatase activity in an in vitro assay and a yeast assay (PMID: 10866302, PMID: 29706350). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN Y174N |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952145T>A |
cDNA | c.520T>A |
Protein | p.Y174N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87952145T>A | c.520T>A | p.Y174N | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87952145T>A | c.520T>A | p.Y174N | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87952145T>A | c.520T>A | p.Y174N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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