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Gene | PTEN |
Variant | L108_D109del |
Impact List | deletion |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN L108_D109del results in the deletion of two amino acids in the phosphatase tensin-type domain of the Pten protein from amino acids 108 to 109 (UniProt.org). L108_D109del has been identified in sequencing studies (PMID: 18757403), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jun 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN L108_D109del |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933082_87933087delTTGACC |
cDNA | c.323_328delTTGACC |
Protein | p.L108_D109del |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933082_87933087delTTGACC | c.323_328delTTGACC | p.L108_D109del | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN L108_D109del | unknown |