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| Gene | ATRX |
| Variant | S2138F |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX S2138F lies within the helicase C-terminal domain of the Atrx protein (UniProt.org). S2138F has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATRX mutant ATRX S2138F |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77558760G>A |
| cDNA | c.6413C>T |
| Protein | p.S2138F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000489 | chrX:g.77558760G>A | c.6413C>T | p.S2138F | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77558760G>A | c.6413C>T | p.S2138F | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77558760G>A | c.6413C>T | p.S2138F | 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... |