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Gene PTEN
Variant L247_P248del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN L247_P248del results in the deletion of two amino acids in the C2 tensin-type domain of the Pten protein from amino acids 247 to 248 (UniProt.org). L247_P248del has not been biochemically characterized, but results in increased transformation ability in two different cell lines (PMID: 29533785), and therefore, is predicted to lead to a loss of Pten protein function.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN L247_P248del

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Transcript NM_000314.8
gDNA chr10:g.87957957_87957962delTTACCT
cDNA c.739_744delTTACCT
Protein p.L247_P248delLP
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001304717.5 chr10:g.87931056_87931061delAGACAT c.739_744delAGACAT p.R247_H248delRH RefSeq GRCh38/hg38
NM_001304717.2 chr10:g.87931056_87931061delAGACAT c.739_744delAGACAT p.R247_H248delRH RefSeq GRCh38/hg38
NM_000314 chr10:g.87957957_87957962delTTACCT c.739_744delTTACCT p.L247_P248delLP RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87957957_87957962delTTACCT c.739_744delTTACCT p.L247_P248delLP RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87957957_87957962delTTACCT c.739_744delTTACCT p.L247_P248delLP RefSeq GRCh38/hg38
NM_001304717 chr10:g.87931056_87931061delAGACAT c.739_744delAGACAT p.R247_H248delRH RefSeq GRCh38/hg38

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