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Gene | PTEN |
Variant | V255del |
Impact List | deletion |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN V255del results in the deletion of an amino acid in the C2 tensin-type domain of the Pten protein at amino acid 255 (UniProt.org). V255del results in reduced phosphatase activity in a yeast assay (PMID: 29706350), and therefore, is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN V255del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957982_87957984delTAG |
cDNA | c.764_766delTAG |
Protein | p.V255delV |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001304717.5 | chr10:g.87931080_87931082delAAT | c.763_765delAAT | p.N255delN | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87957982_87957984delTAG | c.764_766delTAG | p.V255delV | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957982_87957984delTAG | c.764_766delTAG | p.V255del | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN V255del | loss of function - predicted |