Gene Variant Detail

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Gene PTEN
Variant R335*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions PTEN R335* results in a premature truncation of the Pten protein at amino acid 335 of 403 within the C2 tensin-type domain (UniProt.org). R335* results in increased transformation ability in two different cell lines (PMID: 29533785), demonstrates reduced Pten protein stability, and fails to suppress Akt phosphorylation in cell culture, and delays developmental growth in flies (PMID: 32350270), and fails to suppress transcription of E2f1-regulated genes in culture (PMID: 29108454).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN R335*

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Transcript NM_000314.8
gDNA chr10:g.87961095C>T
cDNA c.1003C>T
Protein p.R335*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87961095C>T c.1003C>T p.R335* RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87961095C>T c.1003C>T p.R335* RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87961095C>T c.1003C>T p.R335* 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 R335* loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor