Gene Variant Detail

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Gene PTEN
Variant D24H
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN D24H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D24H results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and results in abnormal cellular localization and loss of PI3K/AKT/MTOR pathway inhibition, as indicated by increased expression of S6rp in patient samples (PMID: 30626916), 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 D24H

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Transcript NM_000314.8
gDNA chr10:g.87864539G>C
cDNA c.70G>C
Protein p.D24H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87864539G>C c.70G>C p.D24H RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87864539G>C c.70G>C p.D24H RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 Protein Effect Treatment Approaches
PTEN D24H loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor