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Gene PTEN
Variant Y188del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN Y188del results in the deletion of an amino acid of the Pten protein at amino acid 188 (UniProt.org). Y188del results in reduced phosphatase activity in a yeast assay (PMID: 29706350), 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 Y188del

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Transcript NM_000314.8
gDNA chr10:g.87952187_87952189delTAT
cDNA c.562_564delTAT
Protein p.Y188delY
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87952187_87952189delTAT c.562_564delTAT p.Y188delY RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87952187_87952189delTAT c.562_564delTAT p.Y188del RefSeq GRCh38/hg38
NM_001304718.2 chr10:g.87965413_87965415delTCT c.562_564delTCT p.S188delS RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864512_87864514delAGA c.562_564delAGA p.R188delR RefSeq GRCh38/hg38

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