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Gene | PTEN |
Variant | D24E |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN D24E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D24E has been identified in sequencing studies (PMID: 32187361), 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 D24E |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864541C>G |
cDNA | c.72C>G |
Protein | p.D24E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87864541C>G | c.72C>G | p.D24E | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864541C>G | c.72C>G | p.D24E | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN D24E | unknown |