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Gene | PTEN |
Variant | K6N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN K6N lies within the lipid binding domain of the Pten protein (PMID: 25263454). K6N demonstrates a gene expression signature correlated with wild-type Pten in culture (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN K6N |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864487A>C |
cDNA | c.18A>C |
Protein | p.K6N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87864487A>C | c.18A>C | p.K6N | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87864487A>C | c.18A>C | p.K6N | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87864487A>C | c.18A>C | p.K6N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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