Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | PTEN |
Variant | A126V |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN A126V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A126V results in a loss of Pten phosphatase activity in cell culture and loss of Pi3k inhibition in yeast (PMID: 21828076, PMID: 26504226). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN A126V |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933136C>T |
cDNA | c.377C>T |
Protein | p.A126V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |