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Gene | PTEN |
Variant | E150K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN E150K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). E150K is predicted to affect the function of Pten by structural modeling (PMID: 31074114), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN E150K |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933207G>A |
cDNA | c.448G>A |
Protein | p.E150K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933207G>A | c.448G>A | p.E150K | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933207G>A | c.448G>A | p.E150K | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933207G>A | c.448G>A | p.E150K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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