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| Gene | ATRX |
| Variant | E853D |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX E853D does not lie within any known functional domains of the Atrx protein (UniProt.org). E853D has been identified in sequencing studies (PMID: 31470906), 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 E853D |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77682697C>G |
| cDNA | c.2559G>C |
| Protein | p.E853D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_005262155 | chrX:g.77682580T>G | c.2559A>C | p.E853D | RefSeq | GRCh38/hg38 |
| XM_006724666.4 | chrX:g.77682580T>G | c.2559A>C | p.E853D | RefSeq | GRCh38/hg38 |
| XM_006724666.5 | chrX:g.77682580T>G | c.2559A>C | p.E853D | RefSeq | GRCh38/hg38 |
| XM_006724666 | chrX:g.77682580T>G | c.2559A>C | p.E853D | RefSeq | GRCh38/hg38 |
| XM_005262155.4 | chrX:g.77682580T>G | c.2559A>C | p.E853D | RefSeq | GRCh38/hg38 |
| XM_006724668.4 | chrX:g.77682697C>G | c.2559G>C | p.E853D | RefSeq | GRCh38/hg38 |
| NM_000489 | chrX:g.77682697C>G | c.2559G>C | p.E853D | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77682697C>G | c.2559G>C | p.E853D | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77682697C>G | c.2559G>C | p.E853D | RefSeq | GRCh38/hg38 |
| XM_006724668 | chrX:g.77682697C>G | c.2559G>C | p.E853D | RefSeq | GRCh38/hg38 |
| XM_006724668.3 | chrX:g.77682697C>G | c.2559G>C | p.E853D | RefSeq | GRCh38/hg38 |
| XM_047442191.1 | chrX:g.77682697C>G | c.2559G>C | p.E853D | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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