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Gene | PTEN |
Variant | P246S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN P246S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P246S has been identified in the scientific literature (PMID: 15195137), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Apr 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN P246S |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957954C>T |
cDNA | c.736C>T |
Protein | p.P246S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87957954C>T | c.736C>T | p.P246S | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957954C>T | c.736C>T | p.P246S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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