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Gene | PTEN |
Variant | A126S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN A126S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A126S results in a loss of Pten phosphatase activity in culture and reduced inhibition of Pi3k activity in yeast (PMID: 26504226, PMID: 21828076). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN A126S |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933135G>T |
cDNA | c.376G>T |
Protein | p.A126S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |