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Gene | PTEN |
Variant | S362L |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PTEN S362L does not lie within any known functional domains of the Pten protein (UniProt.org). S362L demonstrates inhibition of Akt phosphorylation similar to wild-type Pten in cell culture (PMID: 19329485), and therefore, is predicted to have no effect on Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN S362L |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965345C>T |
cDNA | c.1085C>T |
Protein | p.S362L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87965345C>T | c.1085C>T | p.S362L | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87965345C>T | c.1085C>T | p.S362L | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965345C>T | c.1085C>T | p.S362L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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