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Gene | PTEN |
Variant | K6del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN K6del results in the deletion of an amino acid within the Pten protein at amino acid 6 (UniProt.org). K6del 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 K6del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864485_87864487delAAA |
cDNA | c.16_18delAAA |
Protein | p.K6delK |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304718.2 | chr10:g.87952232_87952234delATT | c.16_18delATT | p.I6delI | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87864485_87864487delAAA | c.16_18delAAA | p.K6del | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864485_87864487delAAA | c.16_18delAAA | p.K6delK | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87863966_87863968delAAG | c.17_19delAAG | p.E6delE | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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