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| Gene | ATRX |
| Variant | M1596I |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX M1596I lies within the helicase ATP-binding domain of the Atrx protein (UniProt.org). M1596I has been identified in the scientific literature (PMID: 34527851), but 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 M1596I |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77634615C>G |
| cDNA | c.4788G>C |
| Protein | p.M1596I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000489.4 | chrX:g.77634615C>G | c.4788G>C | p.M1596I | RefSeq | GRCh38/hg38 |
| XM_047442191.1 | chrX:g.77634615C>G | c.4788G>C | p.M1596I | RefSeq | GRCh38/hg38 |
| XM_006724668.3 | chrX:g.77634615C>G | c.4788G>C | p.M1596I | RefSeq | GRCh38/hg38 |
| XM_005262155.4 | chrX:g.77633617C>G | c.4788G>C | p.M1596I | RefSeq | GRCh38/hg38 |
| XM_006724668 | chrX:g.77634615C>G | c.4788G>C | p.M1596I | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77634615C>G | c.4788G>C | p.M1596I | RefSeq | GRCh38/hg38 |
| XM_006724668.4 | chrX:g.77634615C>G | c.4788G>C | p.M1596I | RefSeq | GRCh38/hg38 |
| XM_006724666.4 | chrX:g.77633617C>G | c.4788G>C | p.M1596I | RefSeq | GRCh38/hg38 |
| XM_005262155 | chrX:g.77633617C>G | c.4788G>C | p.M1596I | RefSeq | GRCh38/hg38 |
| XM_006724666.5 | chrX:g.77633617C>G | c.4788G>C | p.M1596I | RefSeq | GRCh38/hg38 |
| XM_006724666 | chrX:g.77633617C>G | c.4788G>C | p.M1596I | RefSeq | GRCh38/hg38 |
| NM_000489 | chrX:g.77634615C>G | c.4788G>C | p.M1596I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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