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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 |