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Gene | PTEN |
Variant | G251del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN G251del results in the deletion of an amino acid in the C2 tensin-type domain of the Pten protein at amino acid 251 (UniProt.org). G251del has been identified in the scientific literature (PMID: 35171658), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Dec 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN G251del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957970_87957972delGTG |
cDNA | c.752_754delGTG |
Protein | p.G251delG |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87957970_87957972delGTG | c.752_754delGTG | p.G251del | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87957970_87957972delGTG | c.752_754delGTG | p.G251delG | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87931068_87931070delACC | c.751_753delACC | p.T251delT | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN G251del | unknown |