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Gene | PTEN |
Variant | G127E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN G127E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G127E retains Pten protein expression in a patient sample (PMID: 32610572), but demonstrates loss of phosphatase activity in a yeast assay (PMID: 21828076, PMID: 29706350). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN G127E |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933139G>A |
cDNA | c.380G>A |
Protein | p.G127E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87933139G>A | c.380G>A | p.G127E | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933139G>A | c.380G>A | p.G127E | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933139G>A | c.380G>A | p.G127E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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