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Gene | PTEN |
Variant | Q396R |
Impact List | missense |
Protein Effect | no effect - predicted |
Gene Variant Descriptions | PTEN Q396R does not lie within any known functional domains of the Pten protein (UniProt.org). Q396R demonstrates increased suppression of Akt phosphorylation, but leads to Pten protein stability similar to wild-type Pten in cell culture (PMID: 32350270), and therefore, is predicted to have no effect on Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN Q396R |
Transcript | NM_000314.8 |
gDNA | chr10:g.87965447A>G |
cDNA | c.1187A>G |
Protein | p.Q396R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87965447A>G | c.1187A>G | p.Q396R | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87965447A>G | c.1187A>G | p.Q396R | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87965447A>G | c.1187A>G | p.Q396R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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