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 | P354Q |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PTEN P354Q does not lie within any known functional domains of the Pten protein (UniProt.org). P354Q demonstrates ability to rescue spheroid formation (PMID: 32366478), Pten protein stability (PMID: 32350270, PMID: 32366478), and Akt phosphorylation similar to wild-type Pten in cell culture, and results in normal developmental growth in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN P354Q |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965321C>A |
cDNA | c.1061C>A |
Protein | p.P354Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87965321C>A | c.1061C>A | p.P354Q | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965321C>A | c.1061C>A | p.P354Q | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965321C>A | c.1061C>A | p.P354Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN P354Q | no effect |