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Gene | PTEN |
Variant | L247F |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN L247F lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L247F has been identified in sequencing studies (PMID: 23274167), 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 L247F |
Transcript | NM_000314.8 |
gDNA | chr10:g.87957959A>T |
cDNA | c.741A>T |
Protein | p.L247F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87957959A>T | c.741A>T | p.L247F | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87957959A>T | c.741A>T | p.L247F | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN L247F | unknown |