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Gene | PTEN |
Variant | G293V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN G293V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). G293V has been identified in the scientific literature (PMID: 27194209, PMID: 30181556), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jan 2024). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN G293V |
Transcript | NM_000314.8 |
gDNA | chr10:g.87960970G>T |
cDNA | c.878G>T |
Protein | p.G293V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87960970G>T | c.878G>T | p.G293V | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87960970G>T | c.878G>T | p.G293V | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87960970G>T | c.878G>T | p.G293V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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