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| Gene | ATRX |
| Variant | E607K |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX E607K does not lie within any known functional domains of the Atrx protein (UniProt.org). E607K has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Jan 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATRX mutant ATRX E607K |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77683437C>T |
| cDNA | c.1819G>A |
| Protein | p.E607K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006724668 | chrX:g.77683437C>T | c.1819G>A | p.E607K | RefSeq | GRCh38/hg38 |
| XM_017029601.3 | chrX:g.77683347C>T | c.1819G>A | p.E607K | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77683437C>T | c.1819G>A | p.E607K | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77683437C>T | c.1819G>A | p.E607K | RefSeq | GRCh38/hg38 |
| XM_017029601 | chrX:g.77683347C>T | c.1819G>A | p.E607K | RefSeq | GRCh38/hg38 |
| XM_047442191.1 | chrX:g.77683437C>T | c.1819G>A | p.E607K | RefSeq | GRCh38/hg38 |
| NM_000489 | chrX:g.77683437C>T | c.1819G>A | p.E607K | RefSeq | GRCh38/hg38 |
| XM_006724668.3 | chrX:g.77683437C>T | c.1819G>A | p.E607K | RefSeq | GRCh38/hg38 |
| XM_017029601.2 | chrX:g.77683347C>T | c.1819G>A | p.E607K | RefSeq | GRCh38/hg38 |
| XM_006724668.4 | chrX:g.77683437C>T | c.1819G>A | p.E607K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| ATRX mutant | high grade glioma | not applicable | N/A | Guideline | Diagnostic | ATRX mutations aid in the diagnosis of gliomas (NCCN.org). | detail... |