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| Gene | ARID1A |
| Variant | S2256* |
| Impact List | nonsense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ARID1A S2256* results in a premature truncation of the Arid1a protein at amino acid 2256 of 2285 (UniProt.org). S2256* has been identified in the scientific literature (PMID: 38833522), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Aug 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ARID1A mutant ARID1A S2256* |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26780665C>A |
| cDNA | c.6767C>A |
| Protein | p.S2256* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015.6 | chr1:g.26780665C>A | c.6767C>A | p.S2256* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ARID1A S2256* | urinary bladder cancer | sensitive | Tulmimetostat | Preclinical - Cell culture | Actionable | In a preclinical study, Tulmimetostat inhibited viability in 5/6 bladder cancer cell lines harboring ARID1A loss of function mutations including ARID1A S2256* in culture (PMID: 38833522). | 38833522 |