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Gene | PTEN |
Variant | F200S |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN F200S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). F200S has been identified in sequencing studies (PMID: 27882345, PMID: 34759319), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN F200S |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952224T>C |
cDNA | c.599T>C |
Protein | p.F200S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87952224T>C | c.599T>C | p.F200S | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN F200S | unknown |