Gene Variant Detail

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Gene PTEN
Variant Q396R
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions PTEN Q396R does not lie within any known functional domains of the Pten protein (UniProt.org). Q396R demonstrates increased suppression of Akt phosphorylation, but leads to Pten protein stability similar to wild-type Pten in cell culture (PMID: 32350270), and therefore, is predicted to have no effect on Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN Q396R

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Transcript NM_000314.8
gDNA chr10:g.87965447A>G
cDNA c.1187A>G
Protein p.Q396R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87965447A>G c.1187A>G p.Q396R RefSeq GRCh38/hg38
NM_000314 chr10:g.87965447A>G c.1187A>G p.Q396R RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87965447A>G c.1187A>G p.Q396R 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

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