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Gene | PTEN |
Variant | Q261* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN Q261* results in a premature truncation of the Pten protein at amino acid 261 of 403 (UniProt.org). Q261* confers a loss of Pten protein function as demonstrated by reduced phosphatase activity in a yeast assay (PMID: 29706350) and decreased protein levels and increased phosphorylation of Akt and S6 in a patient tumor sample (PMID: 25003235). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN Q261* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957999C>T |
cDNA | c.781C>T |
Protein | p.Q261* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87957999C>T | c.781C>T | p.Q261* | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87957999C>T | c.781C>T | p.Q261* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87957999C>T | c.781C>T | p.Q261* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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