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Gene | PTEN |
Variant | Y180H |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PTEN Y180H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y180H demonstrates ability to rescue spheroid formation (PMID: 32366478), Pten protein stability (PMID: 32350270, PMID: 32366478), and Akt phosphorylation similar to wild-type Pten in cell culture, and results in normal developmental growth in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN Y180H |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952163T>C |
cDNA | c.538T>C |
Protein | p.Y180H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87952163T>C | c.538T>C | p.Y180H | RefSeq | GRCh38/hg38 |
NM_001304718.2 | chr10:g.87965389T>C | c.538T>C | p.Y180H | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87952163T>C | c.538T>C | p.Y180H | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87952163T>C | c.538T>C | p.Y180H | RefSeq | GRCh38/hg38 |
NM_001304718.1 | chr10:g.87965389T>C | c.538T>C | p.Y180H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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