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| Gene | ATRX |
| Variant | N2125S |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX N2125S lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). N2125S has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATRX mutant ATRX N2125S |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77558799T>C |
| cDNA | c.6374A>G |
| Protein | p.N2125S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_017029606 | chrX:g.77557545T>C | c.6374A>G | p.N2125S | RefSeq | GRCh38/hg38 |
| NM_000489 | chrX:g.77558799T>C | c.6374A>G | p.N2125S | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77558799T>C | c.6374A>G | p.N2125S | RefSeq | GRCh38/hg38 |
| XM_017029608.2 | chrX:g.77557494T>C | c.6374A>G | p.N2125S | RefSeq | GRCh38/hg38 |
| XM_017029606.2 | chrX:g.77557545T>C | c.6374A>G | p.N2125S | RefSeq | GRCh38/hg38 |
| XM_017029608 | chrX:g.77557494T>C | c.6374A>G | p.N2125S | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77558799T>C | c.6374A>G | p.N2125S | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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