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Gene | PTEN |
Variant | Y65S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN Y65S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y65S confers a loss of function on Pten as demonstrated by altered cell morphology and cytoskeletal organization, decreased ability to suppress proliferation and migration, and increased phosphorylation of Akt in cultured cells, and resistance to apoptotic induction in one of two assays (PMID: 34943931). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN Y65S |
Transcript | NM_000314.8 |
gDNA | chr10:g.87925542A>C |
cDNA | c.194A>C |
Protein | p.Y65S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87925542A>C | c.194A>C | p.Y65S | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87925542A>C | c.194A>C | p.Y65S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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