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Gene | PTEN |
Variant | Q214* |
Impact List | nonsense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN Q214* results in a premature truncation of the Pten protein at amino acid 214 of 403 UniProt.org). Q214* confers a loss of Pten protein function as demonstrated by reduced phosphatase activity in a yeast assay (PMID: 29706350) and failure to suppress transcription of E2f1-regulated genes in culture (PMID: 29108454). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN Q214* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957858C>T |
cDNA | c.640C>T |
Protein | p.Q214* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87957858C>T | c.640C>T | p.Q214* | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957858C>T | c.640C>T | p.Q214* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87957858C>T | c.640C>T | p.Q214* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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