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Gene | PTEN |
Variant | T202I |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN T202I lies within the C2 tensin-type domain of the Pten protein (UniProt.org). T202I leads to reduced developmental growth rate in flies (PMID: 32350270) and reduced Pten protein expression and increased sumoylation, however, retains the ability to suppress PI3K signaling, and demonstrates nuclear localization and lipid phosphatase activity similar to wild-type Pten in culture (PMID: 32150788, PMID: 21828076), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN T202I |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952230C>T |
cDNA | c.605C>T |
Protein | p.T202I |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87952230C>T | c.605C>T | p.T202I | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87952230C>T | c.605C>T | p.T202I | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87952230C>T | c.605C>T | p.T202I | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN T202I | unknown |