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 | E157G |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN E157G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). E157G demonstrates moderate decrease in phosphatase activity in yeast (PMID: 21828076), and leads to reduced Pten protein stability, fails to suppress Akt phosphorylation in cell culture, and leads to impaired developmental growth in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN E157G |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933229A>G |
cDNA | c.470A>G |
Protein | p.E157G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933229A>G | c.470A>G | p.E157G | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933229A>G | c.470A>G | p.E157G | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933229A>G | c.470A>G | p.E157G | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|