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Gene PTEN
Variant T321fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN T321fs results in a change in the amino acid sequence of the PTEN protein beginning at aa 321 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). T321fs has not been characterized, however, due to the effects of other truncation mutations downstream of T321 (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 T321fs

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Transcript NM_000314.8
gDNA chr10:g.(87961052_87961053)
cDNA c.(961_960)
Protein p.T321fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.(87961052_87961053) c.(961_960) p.T321fs RefSeq GRCh38/hg38
NM_000314.6 chr10:g.(87961052_87961053) c.(961_960) p.T321fs RefSeq GRCh38/hg38
NM_000314 chr10:g.(87961052_87961053) c.(961_960) p.T321fs 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 Protein Effect Treatment Approaches
PTEN T321fs loss of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor
FGFR2 N550K PIK3CA I20M PIK3CA P539R PTEN R130Q PTEN T321fs
KIT Y570_L576del KIT D816E PTEN T321fs