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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 |
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_001304717.5 | chr10:g.87864512_87864514delAGA | c.562_564delAGA | p.R188delR | RefSeq | GRCh38/hg38 |
NM_001304718.2 | chr10:g.87965413_87965415delTCT | c.562_564delTCT | p.S188delS | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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