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Gene PTEN
Variant P248fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN P248fs results in a change in the amino acid sequence of the Pten protein beginning at aa 248 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). P248fs has not been characterized, however, due to the effects of other truncation mutations downstream of P248 (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 P248fs

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Transcript NM_000314.8
gDNA chr10:g.(87957959_87957960)
cDNA c.(742_741)
Protein p.P248fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.(87957959_87957960) c.(742_741) p.P248fs RefSeq GRCh38/hg38
NM_000314 chr10:g.(87957959_87957960) c.(742_741) p.P248fs RefSeq GRCh38/hg38
NM_000314.8 chr10:g.(87957959_87957960) c.(742_741) p.P248fs 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries