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| Gene | ARID1A |
| Variant | P478del |
| Impact List | deletion |
| Protein Effect | unknown |
| Gene Variant Descriptions | ARID1A P478del results in the deletion of an amino acid of the Arid1a protein at amino acid 478 (UniProt.org). P478del has been identified in sequencing studies (PMID: 22634756), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Feb 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ARID1A mutant ARID1A P478del |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26731234_26731236delCTC |
| cDNA | c.1433_1435delCTC |
| Protein | p.P478delP |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015.6 | chr1:g.26731234_26731236delCTC | c.1433_1435delCTC | p.P478delP | RefSeq | GRCh38/hg38 |
| NM_006015.5 | chr1:g.26731234_26731236delCTC | c.1433_1435delCTC | p.P478del | RefSeq | GRCh38/hg38 |
| NM_139135.4 | chr1:g.26731234_26731236delCTC | c.1433_1435delCTC | p.P478delP | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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