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 | K125N |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN K125N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K125N results in a loss of phosphatase activity in culture (PMID: 25873899), and therefore, is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN K125N |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933134A>C |
cDNA | c.375A>C |
Protein | p.K125N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |