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PTEN C136Y - Gene Variant Detail

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Gene PTEN
Variant C136Y
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN C136Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C136Y confers a loss of Pten protein function as demonstrated by loss of phosphatase activity in an in vitro assay and a yeast assay (PMID: 10866302, PMID: 29706350), and failure to suppress phosphorylation of Pdk1, Akt, and Gsk3beta in cultured cells (PMID: 32704382).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN C136Y

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Transcript NM_000314.8
gDNA chr10:g.87933166G>A
cDNA c.407G>A
Protein p.C136Y
Source Database RefSeq
Genome Build GRCh38/hg38

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