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| Gene | ATRX |
| Variant | R1803C |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX R1803C does not lie within any known functional domains of the Atrx protein (UniProt.org). R1803C has been identified in sequencing studies (PMID: 24710217, PMID: 24703847), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Mar 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATRX mutant ATRX R1803C |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77618847G>A |
| cDNA | c.5407C>T |
| Protein | p.R1803C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000489.6 | chrX:g.77618847G>A | c.5407C>T | p.R1803C | RefSeq | GRCh38/hg38 |
| XM_006724668 | chrX:g.77618847G>A | c.5407C>T | p.R1803C | RefSeq | GRCh38/hg38 |
| XM_006724668.4 | chrX:g.77618847G>A | c.5407C>T | p.R1803C | RefSeq | GRCh38/hg38 |
| NM_000489 | chrX:g.77618847G>A | c.5407C>T | p.R1803C | RefSeq | GRCh38/hg38 |
| XM_017029607 | chrX:g.77600488_77600490delTCTinsACA | c.5407_5409delAGAinsTGT | p.R1803C | RefSeq | GRCh38/hg38 |
| XM_006724668.3 | chrX:g.77618847G>A | c.5407C>T | p.R1803C | RefSeq | GRCh38/hg38 |
| XM_017029607.2 | chrX:g.77600488_77600490delAGAinsTGT | c.5407_5409delAGAinsTGT | p.R1803C | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77618847G>A | c.5407C>T | p.R1803C | RefSeq | GRCh38/hg38 |
| XM_047442191.1 | chrX:g.77618847G>A | c.5407C>T | p.R1803C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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