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 | E73K |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN E73K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). E73K leads to normal developmental growth in flies, but demonstrates reduced Pten protein stability and fails to suppress Akt phosphorylation in cell culture (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN E73K |
Transcript | NM_000314.8 |
gDNA | chr10:g.87931053G>A |
cDNA | c.217G>A |
Protein | p.E73K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87931053G>A | c.217G>A | p.E73K | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87931053G>A | c.217G>A | p.E73K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN E73K | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |