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Gene | PTEN |
Variant | R173P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN R173P lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). R173P demonstrates loss of phosphatase activity in an in-vitro assay (PMID: 10866302), and reduced Pten protein stability, and fails to suppress Akt phosphorylation in cell culture, and delays developmental growth in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN R173P |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952143G>C |
cDNA | c.518G>C |
Protein | p.R173P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87952143G>C | c.518G>C | p.R173P | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87952143G>C | c.518G>C | p.R173P | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87952143G>C | c.518G>C | p.R173P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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