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| Gene | ATRX |
| Variant | E2172A |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX E2172A lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). E2172A has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Apr 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATRX mutant ATRX E2172A |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77557635T>G |
| cDNA | c.6515A>C |
| Protein | p.E2172A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000489.4 | chrX:g.77557635T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| XM_017029604.3 | chrX:g.77523385T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77557635T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| XM_017029604.2 | chrX:g.77523385T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| XM_006724666.5 | chrX:g.77557518T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| XM_005262155.4 | chrX:g.77557518T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| NM_000489 | chrX:g.77557635T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| XM_006724667.3 | chrX:g.77523307T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| XM_017029610.1 | chrX:g.77523265T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| XM_005262155 | chrX:g.77557518T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| XM_017029610 | chrX:g.77523265T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| XM_006724667 | chrX:g.77523307T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| XM_017029604 | chrX:g.77523385T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| XM_006724666 | chrX:g.77557518T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| XM_006724666.4 | chrX:g.77557518T>G | c.6515A>C | p.E2172A | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ATRX E2172A | unknown |