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Gene | PTEN |
Variant | S170R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN S170R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). S170R results in loss of Pten phosphatase activity in an in vitro assay and a yeast assay (PMID: 10866302, PMID: 29706350). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN S170R |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952135T>G |
cDNA | c.510T>G |
Protein | p.S170R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |