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Gene | PTEN |
Variant | Y68* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN Y68* results in a premature truncation of the Pten protein at amino acid 68 of 403 (UniProt.org). Y68* has not been characterized, however, due to the effects of other truncation mutations downstream of Y68 (PMID: 10468583), is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN Y68* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87925552C>A |
cDNA | c.204C>A |
Protein | p.Y68* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87925552C>A | c.204C>A | p.Y68* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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