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| Gene | ATRX |
| Variant | P1750R |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX P1750R lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). P1750R 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 P1750R |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77620418G>C |
| cDNA | c.5249C>G |
| Protein | p.P1750R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006724668.3 | chrX:g.77620418G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77620418G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77620418G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
| XM_017029607.2 | chrX:g.77616696G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
| XM_047442191.1 | chrX:g.77620418G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
| NM_000489 | chrX:g.77620418G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
| XM_006724668.4 | chrX:g.77620418G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
| XM_017029607 | chrX:g.77616696G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
| XM_006724668 | chrX:g.77620418G>C | c.5249C>G | p.P1750R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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