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Gene | PTEN |
Variant | Y46C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN Y46C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y46C has been identified in sequencing studies (PMID: 20530683, PMID: 28683746), 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 Y46C |
Transcript | NM_000314.8 |
gDNA | chr10:g.87894082A>G |
cDNA | c.137A>G |
Protein | p.Y46C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87894082A>G | c.137A>G | p.Y46C | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87894082A>G | c.137A>G | p.Y46C | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87894082A>G | c.137A>G | p.Y46C | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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