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Gene PTEN
Variant P246fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN P246fs results in a change in the amino acid sequence of the Pten protein beginning at aa 246 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). P246fs has not been characterized, however, due to the effects of other truncation mutations downstream of P246 (PMID: 10468583), is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN P246fs

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Transcript NM_000314.8
gDNA chr10:g.(87957953_87957954)
cDNA c.(736_735)
Protein p.P246fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.(87957953_87957954) c.(736_735) p.P246fs RefSeq GRCh38/hg38
NM_000314 chr10:g.87957955delC c.737delC p.P246fs*10 RefSeq GRCh38/hg38
NM_000314.6 chr10:g.(87957953_87957954) c.(736_735) p.P246fs 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries