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Gene | PTEN |
Variant | G44D |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN G44D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G44D demonstrates Pten protein stability similar to wild-type protein, however, fails to rescue spheroid formation in cell culture (PMID: 32366478), and demonstrates loss of phosphatase activity in a yeast assay (PMID: 21828076). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN G44D |
Transcript | NM_000314.8 |
gDNA | chr10:g.87894076G>A |
cDNA | c.131G>A |
Protein | p.G44D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87894076G>A | c.131G>A | p.G44D | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87894076G>A | c.131G>A | p.G44D | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87894076G>A | c.131G>A | p.G44D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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