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Gene | PTEN |
Variant | I135V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN I135V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I135V demonstrates Pten protein stability (PMID: 32350270, PMID: 32366478), and Akt phosphorylation (PMID: 32350270) similar to wild-type Pten, however, results in an intermediate ability to rescue spheroid formation in cell culture (PMID: 32366478), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN I135V |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933162A>G |
cDNA | c.403A>G |
Protein | p.I135V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87933162A>G | c.403A>G | p.I135V | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933162A>G | c.403A>G | p.I135V | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933162A>G | c.403A>G | p.I135V | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PTEN I135V | unknown |