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Gene | PTEN |
Variant | T277del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN T277del results in the deletion of an amino acid in the C2 tensin-type domain of the Pten protein at amino acid 277 (UniProt.org). T277del 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 T277del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87960921_87960923delACA |
cDNA | c.829_831delACA |
Protein | p.T277delT |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87960921_87960923delACA | c.829_831delACA | p.T277del | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87960921_87960923delACA | c.829_831delACA | p.T277delT | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87933070_87933072delTTT | c.830_832delTTT | p.F277delF | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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