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Gene PTEN
Variant L112R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN L112R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L112R results in loss of Pten phosphatase activity in an in vitro assay and a yeast assay (PMID: 29706350, PMID: 10866302).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN L112R

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Transcript NM_000314.8
gDNA chr10:g.87933094T>G
cDNA c.335T>G
Protein p.L112R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87933094T>G c.335T>G p.L112R RefSeq GRCh38/hg38
NM_000314 chr10:g.87933094T>G c.335T>G p.L112R RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864285T>G c.335T>G p.L112R RefSeq GRCh38/hg38
NM_001304717.2 chr10:g.87864285T>G c.335T>G p.L112R RefSeq GRCh38/hg38
NM_001304717 chr10:g.87864285T>G c.335T>G p.L112R RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933094T>G c.335T>G p.L112R 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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References