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| Gene | ATRX |
| Variant | D2326Y |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX D2326Y does not lie within any known functional domains of the Atrx protein (UniProt.org). D2326Y has been identified in sequencing studies (PMID: 26960398), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATRX mutant ATRX D2326Y |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77521498C>A |
| cDNA | c.6976G>T |
| Protein | p.D2326Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000489 | chrX:g.77521498C>A | c.6976G>T | p.D2326Y | RefSeq | GRCh38/hg38 |
| XM_017029604.3 | chrX:g.77520811C>A | c.6976G>T | p.D2326Y | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77521498C>A | c.6976G>T | p.D2326Y | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77521498C>A | c.6976G>T | p.D2326Y | RefSeq | GRCh38/hg38 |
| XM_017029604 | chrX:g.77520811C>A | c.6976G>T | p.D2326Y | RefSeq | GRCh38/hg38 |
| XM_017029604.2 | chrX:g.77520811C>A | c.6976G>T | p.D2326Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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