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Gene PTEN
Variant K289Nfs*8
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN K289Nfs*8 indicates a shift in the reading frame starting at amino acid 289 and terminating 8 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). K289Nfs*8 has not been characterized, however, due to the effects of other truncation mutations downstream of K289 (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 K289Nfs*8

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Transcript NM_000314.8
gDNA chr10:g.87960959_87960960delAG
cDNA c.867_868delAG
Protein p.K289Nfs*8
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87960959_87960960delAG c.867_868delAG p.K289Nfs*8 RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87960959_87960960delAG c.867_868delAG p.K289Nfs*8 RefSeq GRCh38/hg38
NM_000314 chr10:g.87960959_87960960delAG c.867_868delAG p.K289Nfs*8 RefSeq GRCh38/hg38

Filtering

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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Protein Effect Treatment Approaches
PTEN K289Nfs*8 loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor