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 | P38F |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN P38F lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P38F 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 P38F |
Transcript | NM_000314.8 |
gDNA | chr10:g.87894057_87894058delCCinsTT |
cDNA | c.112_113delCCinsTT |
Protein | p.P38F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87894057_87894058delCCinsTT | c.112_113delCCinsTT | p.P38F | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87894057_87894058delCCinsTT | c.112_113delCCinsTT | p.P38F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|