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Gene PTEN
Variant Y178del
Impact List deletion
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN Y178del results in the deletion of an amino acid within the phosphatase tensin-type domain of the Pten protein at amino acid 178 (UniProt.org). Y178del 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 Y178del

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Transcript NM_000314.8
gDNA chr10:g.87952157_87952159delTAT
cDNA c.532_534delTAT
Protein p.Y178delY
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87952157_87952159delTAT c.532_534delTAT p.Y178del RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87864483_87864485delTCA c.533_535delTCA p.I178delI RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87952157_87952159delTAT c.532_534delTAT p.Y178delY RefSeq GRCh38/hg38
NM_001304718.2 chr10:g.87965383_87965385delGAT c.532_534delGAT p.D178delD RefSeq GRCh38/hg38

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries