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Gene | PTEN |
Variant | D324del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN D324del results in the deletion of an amino acid in the C2 tensin-type domain of the Pten protein at amino acid 324 (UniProt.org). D324del results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN D324del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961062_87961064delGAT |
cDNA | c.970_972delGAT |
Protein | p.D324delD |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87961062_87961064delGAT | c.970_972delGAT | p.D324delD | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87961062_87961064delGAT | c.970_972delGAT | p.D324del | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87933210_87933212delGCC | c.970_972delGCC | p.A324delA | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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