PTEN N323Kfs*2
Gene Variant Detail

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Gene PTEN
Variant N323Kfs*2
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN N323Kfs*2 indicates a shift in the reading frame starting at amino acid 323 and terminating 2 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). N323Kfs*2 has not been characterized, however, due to the effects of other truncation mutations downstream of N323 (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 N323fs PTEN N323Kfs*2

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Transcript NM_000314.8
gDNA chr10:g.87961060dupA
cDNA c.968dupA
Protein p.N323Kfs*2
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87961060dupA c.968dupA p.N323Kfs*2 RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87961060dupA c.968dupA p.N323Kfs*2 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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