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 | L140F |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN L140F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). L140F results in reduced phosphatase activity in a yeast assay (PMID: 29706350), 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 L140F |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933179A>T |
cDNA | c.420A>T |
Protein | p.L140F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933179A>T | c.420A>T | p.L140F | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933179A>T | c.420A>T | p.L140F | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN L140F | loss of function - predicted | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |