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Gene | PTEN |
Variant | I122V |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PTEN I122V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I122V demonstrates phosphatase activity similar to wild-type Pten in yeast (PMID: 21828076), and therefore, is predicted to have no effect on Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN I122V |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933123A>G |
cDNA | c.364A>G |
Protein | p.I122V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87933123A>G | c.364A>G | p.I122V | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933123A>G | c.364A>G | p.I122V | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87933123A>G | c.364A>G | p.I122V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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