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| Gene | ARID1A |
| Variant | Q586* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | ARID1A Q586* results in a premature truncation of the Arid1a protein at amino acid 586 of 2285 (UniProt.org). Q586* has not been characterized, however, due to the effects of other truncation mutations downstream of Q586 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A Q586* |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26731557C>T |
| cDNA | c.1756C>T |
| Protein | p.Q586* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015.5 | chr1:g.26731557C>T | c.1756C>T | p.Q586* | RefSeq | GRCh38/hg38 |
| NM_139135.3 | chr1:g.26731557C>T | c.1756C>T | p.Q586* | RefSeq | GRCh38/hg38 |
| NM_139135.4 | chr1:g.26731557C>T | c.1756C>T | p.Q586* | RefSeq | GRCh38/hg38 |
| NM_006015.6 | chr1:g.26731557C>T | c.1756C>T | p.Q586* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ARID1A Q586* | ovarian cancer | sensitive | Olaparib + Temozolomide | Preclinical - Cell culture | Actionable | In a preclinical study, the combination of Lynparza (olaparib) and Temodar (temozolomide) inhibited viability of an ovarian cancer cell line harboring ARID1A Q586* in culture (PMID: 37306706). | 37306706 |