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| Gene | ATRX |
| Variant | D1222N |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX D1222N lies within the DAXX-interacting region of the Atrx protein (UniProt.org). D1222N has been identified in sequencing studies (PMID: 28481359), 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 D1222N |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77681592C>T |
| cDNA | c.3664G>A |
| Protein | p.D1222N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000489 | chrX:g.77681592C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| XM_047442191.1 | chrX:g.77681592C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| XM_006724668.3 | chrX:g.77681592C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| XM_017029602 | chrX:g.77676251C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| XM_006724668.4 | chrX:g.77681592C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77681592C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| NM_138270 | chrX:g.77676257C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| NM_138270.3 | chrX:g.77676257C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| XM_006724668 | chrX:g.77681592C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| XM_017029602.1 | chrX:g.77676251C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| XM_017029604.3 | chrX:g.77664723C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| XM_006724666.4 | chrX:g.77676254C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| XM_017029604 | chrX:g.77664723C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| XM_006724666.5 | chrX:g.77676254C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| XM_005262155 | chrX:g.77676254C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| XM_017029604.2 | chrX:g.77664723C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| XM_006724666 | chrX:g.77676254C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| XM_005262155.4 | chrX:g.77676254C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| NM_138270.5 | chrX:g.77676257C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77681592C>T | c.3664G>A | p.D1222N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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