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 | L325F |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN L325F lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L325F results in a loss of phosphatase activity through failure to inhibit Akt phosphorylation in cell culture (PMID: 19329485), 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 L325F |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961065C>T |
cDNA | c.973C>T |
Protein | p.L325F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87961065C>T | c.973C>T | p.L325F | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87961065C>T | c.973C>T | p.L325F | RefSeq | GRCh38/hg38 |
NM_001304717.2 | chr10:g.87933213_87933215delCTAinsTTT | c.973_975delCTAinsTTT | p.L325F | RefSeq | GRCh38/hg38 |
NM_001304717 | chr10:g.87933213_87933215delCTAinsTTT | c.973_975delCTAinsTTT | p.L325F | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87933213_87933215delCTAinsTTT | c.973_975delCTAinsTTT | p.L325F | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87961065C>T | c.973C>T | p.L325F | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|