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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

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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_001304718.1 chr10:g.87965389T>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_000314 chr10:g.87952163T>C c.538T>C p.Y180H RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References