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Gene PTEN
Variant N184Efs*16
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN N184Efs*16 indicates a shift in the reading frame starting at amino acid 184 and terminating 16 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). N184Efs*16 has not been characterized, however, due to the effects of other truncation mutations downstream of N184 (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 N184Efs*16

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Transcript NM_000314.8
gDNA chr10:g.87952174_87952175insGA
cDNA c.549_550insGA
Protein p.N184Efs*16
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87952174_87952175insGA c.549_550insGA p.N184Efs*16 RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87952174_87952175insGA c.549_550insGA p.N184Efs*16 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