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Gene | PTEN |
Variant | Y68H |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN Y68H lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y68H demonstrates loss of phosphatase activity (PMID: 10866302) and reduced Pten protein stability (PMID: 20926450, PMID: 32350270), and fails to suppress Akt phosphorylation in cell culture, and delays developmental growth in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN Y68H |
Transcript | NM_000314.8 |
gDNA | chr10:g.87925550T>C |
cDNA | c.202T>C |
Protein | p.Y68H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |