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Gene | PTEN |
Variant | T363* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN T363* results in a premature truncation of the Pten protein at amino acid 363 of 403 (UniProt.org). T363* results in decreased Pten protein expression in culture (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 T363* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965347_87965349delACTinsTAA |
cDNA | c.1087_1089delACTinsTAA |
Protein | p.T363* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87965347_87965349delACTinsTAA | c.1087_1089delACTinsTAA | p.T363* | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87965347_87965349delACTinsTAA | c.1087_1089delACTinsTAA | p.T363* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965347_87965349delACTinsTAA | c.1087_1089delACTinsTAA | p.T363* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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