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Gene | PTEN |
Variant | T398* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN T398* results in a premature truncation of the Pten protein at amino acid 398 of 403 (UniProt.org). T398* demonstrates protein stability similar to wild-type Pten in cultured cells (PMID: 10468583), but has not been fully biochemically characterized and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN T398* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965452_87965453delACinsTA |
cDNA | c.1192_1193delACinsTA |
Protein | p.T398* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87965452_87965453delACinsTA | c.1192_1193delACinsTA | p.T398* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965452_87965453delACinsTA | c.1192_1193delACinsTA | p.T398* | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965452_87965453delACinsTA | c.1192_1193delACinsTA | p.T398* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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