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Gene | PTEN |
Variant | N184Efs*16 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN N184Efs*16 indicates a shift in the reading frame starting at amino acid 184 and terminating 16 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). N184Efs*16 has not been characterized, however, due to the effects of other truncation mutations downstream of N184 (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 N184Efs*16 |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952174_87952175insGA |
cDNA | c.549_550insGA |
Protein | p.N184Efs*16 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87952174_87952175insGA | c.549_550insGA | p.N184Efs*16 | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87952174_87952175insGA | c.549_550insGA | p.N184Efs*16 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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