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| Gene | ATRX |
| Variant | K1300R |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX K1300R lies within the DAXX-interacting region of the Atrx protein (UniProt.org). K1300R has been identified in sequencing studies (PMID: 27147599), 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 K1300R |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77664689T>C |
| cDNA | c.3899A>G |
| Protein | p.K1300R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000489 | chrX:g.77664689T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| XM_017029611 | chrX:g.77654150T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| XM_017029604 | chrX:g.77663402T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| XM_017029603.1 | chrX:g.77663435T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| XM_017029604.2 | chrX:g.77663402T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| XM_006724668 | chrX:g.77664689T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| XM_017029611.1 | chrX:g.77654150T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77664689T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| XM_005262153.5 | chrX:g.77664686T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| XM_006724668.4 | chrX:g.77664689T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| XM_017029603 | chrX:g.77663435T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77664689T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| XM_006724668.3 | chrX:g.77664689T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| XM_047442191.1 | chrX:g.77664689T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| XM_005262153.6 | chrX:g.77664686T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| XM_005262153 | chrX:g.77664686T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| XM_017029604.3 | chrX:g.77663402T>C | c.3899A>G | p.K1300R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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