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Gene | PTEN |
Variant | C218* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN C218* results in a premature truncation of the Pten protein at amino acid 218 of 403 (UniProt.org). C218* 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 C218* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957872C>A |
cDNA | c.654C>A |
Protein | p.C218* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87957872C>A | c.654C>A | p.C218* | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957872C>A | c.654C>A | p.C218* | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87957872C>A | c.654C>A | p.C218* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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