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Gene | PTEN |
Variant | G251_D252del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN G251_D252del results in the deletion of two amino acids in the C2 tensin-type domain of the Pten protein from amino acids 251 to 252 (UniProt.org). G251_D252del has not been characterized in the scientific literature and therefore, its effect on Pten protein function is unknown (PubMed, Jul 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN G251_D252del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957969_87957974delGGTGAT |
cDNA | c.751_756delGGTGAT |
Protein | p.G251_D252delGD |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87957969_87957974delGGTGAT | c.751_756delGGTGAT | p.G251_D252del | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87957969_87957974delGGTGAT | c.751_756delGGTGAT | p.G251_D252delGD | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87957969_87957974delGGTGAT | c.751_756delGGTGAT | p.G251_D252delGD | RefSeq | GRCh38/hg38 |
NM_001304717.2 | chr10:g.87931069_87931074delCCGCCA | c.752_757delCCGCCA | p.T251_A252delTA | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87931069_87931074delCCGCCA | c.752_757delCCGCCA | p.T251_A252delTA | RefSeq | GRCh38/hg38 |
NM_001304717 | chr10:g.87931069_87931074delCCGCCA | c.752_757delCCGCCA | p.T251_A252delTA | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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