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 | T277N |
Impact List | missense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN T277N lies within the C2 tensin-type domain of the Pten protein (UniProt.org). T277N 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 T277N |
Transcript | NM_000314.8 |
gDNA | chr10:g.87960922_87960923delCAinsAC |
cDNA | c.830_831delCAinsAC |
Protein | p.T277N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87960922_87960923delCAinsAC | c.830_831delCAinsAC | p.T277N | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87960922_87960923delCAinsAC | c.830_831delCAinsAC | p.T277N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|