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Gene | PTEN |
Variant | A79T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN A79T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A79T demonstrates Pten protein stability (PMID: 32366478, PMID: 32350270), suppression of Akt phosphorylation (PMID: 32350270), and cell proliferation and viability levels similar to wild-type Pten in culture (PMID: 29533785), however, fails to rescue spheroid formation (PMID: 32366478), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN A79T |
Transcript | NM_000314.8 |
gDNA | chr10:g.87931071G>A |
cDNA | c.235G>A |
Protein | p.A79T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87931071G>A | c.235G>A | p.A79T | RefSeq | GRCh38/hg38 |
NM_001304717.2 | chr10:g.87864185G>A | c.235G>A | p.A79T | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864185G>A | c.235G>A | p.A79T | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87931071G>A | c.235G>A | p.A79T | RefSeq | GRCh38/hg38 |
NM_001304717 | chr10:g.87864185G>A | c.235G>A | p.A79T | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87931071G>A | c.235G>A | p.A79T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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