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Gene PTEN
Variant L193fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN L193fs results in a change in the amino acid sequence of the Pten protein beginning at aa 193 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). L193fs has not been characterized, however, due to the effects of other truncation mutations downstream of L193 (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 L193fs

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Transcript NM_000314.8
gDNA chr10:g.(87952201_87952202)
cDNA c.(577_576)
Protein p.L193fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.(87952201_87952202) c.(577_576) p.L193fs RefSeq GRCh38/hg38
NM_000314 chr10:g.(87952201_87952202) c.(577_576) p.L193fs RefSeq GRCh38/hg38
NM_000314.8 chr10:g.(87952201_87952202) c.(577_576) p.L193fs 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References