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| Gene | ARID1A |
| Variant | R1223C |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ARID1A R1223C does not lie within any known functional domains of the Arid1a protein (UniProt.org). R1223C has been identified in sequencing studies (PMID: 22810696, PMID: 28292439, PMID: 30675285), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Oct 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ARID1A mutant ARID1A R1223C |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26772939C>T |
| cDNA | c.3667C>T |
| Protein | p.R1223C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_139135 | chr1:g.26772939C>T | c.3667C>T | p.R1223C | RefSeq | GRCh38/hg38 |
| NM_006015 | chr1:g.26772939C>T | c.3667C>T | p.R1223C | RefSeq | GRCh38/hg38 |
| NM_006015.5 | chr1:g.26772939C>T | c.3667C>T | p.R1223C | RefSeq | GRCh38/hg38 |
| NM_006015.6 | chr1:g.26772939C>T | c.3667C>T | p.R1223C | RefSeq | GRCh38/hg38 |
| NM_139135.3 | chr1:g.26772939C>T | c.3667C>T | p.R1223C | RefSeq | GRCh38/hg38 |
| NM_139135.4 | chr1:g.26772939C>T | c.3667C>T | p.R1223C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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