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| Gene | ARID1A |
| Variant | S2269L |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ARID1A S2269L lies within the GR binding domain of the Arid1a protein (PMID: 23208470). S2269L has been identified in sequencing studies (PMID: 24121792, PMID: 35069089), 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 S2269L |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26780704C>T |
| cDNA | c.6806C>T |
| Protein | p.S2269L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015 | chr1:g.26780704C>T | c.6806C>T | p.S2269L | RefSeq | GRCh38/hg38 |
| NM_006015.6 | chr1:g.26780704C>T | c.6806C>T | p.S2269L | RefSeq | GRCh38/hg38 |
| NM_006015.5 | chr1:g.26780704C>T | c.6806C>T | p.S2269L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|