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Gene | PTEN |
Variant | R74Dfs*25 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN R74Dfs*25 indicates a shift in the reading frame starting at amino acid 74 and terminating 25 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). R74Dfs*25 has not been characterized, however, due to the effects of other truncation mutations downstream of R74 (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 R74Dfs*25 |
Transcript | NM_000314.8 |
gDNA | chr10:g.87931056delA |
cDNA | c.220delA |
Protein | p.R74Dfs*25 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87931056delA | c.220delA | p.R74Dfs*25 | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.(87864170_87864247) | c.(220_297) | p.R74Dfs*25 | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87931056delA | c.220delA | p.R74Dfs*25 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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