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Gene | PTEN |
Variant | C124R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN C124R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C124R demonstrates Pten protein stability similar to wild-type protein, however, fails to rescue spheroid formation in cell culture (PMID: 32366478), and results in a loss of Pten phosphatase activity, and contributes to tumorigenesis in transgenic animal models (PMID: 10866302, PMID: 20194734). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN C124R |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933129T>C |
cDNA | c.370T>C |
Protein | p.C124R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87933129T>C | c.370T>C | p.C124R | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933129T>C | c.370T>C | p.C124R | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933129T>C | c.370T>C | p.C124R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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