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Gene | PTEN |
Variant | Y346* |
Impact List | nonsense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN Y346* results in a premature truncation of the Pten protein at amino acid 346 of 403 (UniProt.org). Y346* has been identified in sequencing studies (PMID: 33876771), 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 Y346* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965298C>A |
cDNA | c.1038C>A |
Protein | p.Y346* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87965298C>A | c.1038C>A | p.Y346* | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965298C>A | c.1038C>A | p.Y346* | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN Y346* | unknown |