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Gene PTEN
Variant H123D
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN H123D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H123D results in a loss of phosphatase activity in yeast (PMID: 21828076, PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN H123D

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Transcript NM_000314.8
gDNA chr10:g.87933126C>G
cDNA c.367C>G
Protein p.H123D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87933126C>G c.367C>G p.H123D RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933126C>G c.367C>G p.H123D RefSeq GRCh38/hg38
NM_000314 chr10:g.87933126C>G c.367C>G p.H123D 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