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Gene | PTEN |
Variant | K66Q |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN K66Q lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K66Q has been identified in sequencing studies (PMID: 10851265), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN K66Q |
Transcript | NM_000314.8 |
gDNA | chr10:g.87925544A>C |
cDNA | c.196A>C |
Protein | p.K66Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304718 | chr10:g.87958005A>C | c.196A>C | p.K66Q | RefSeq | GRCh38/hg38 |
NM_001304718.1 | chr10:g.87958005A>C | c.196A>C | p.K66Q | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87925544A>C | c.196A>C | p.K66Q | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87925544A>C | c.196A>C | p.K66Q | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87925544A>C | c.196A>C | p.K66Q | RefSeq | GRCh38/hg38 |
NM_001304718.2 | chr10:g.87958005A>C | c.196A>C | p.K66Q | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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