Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
| Gene | ATRX |
| Variant | D1247H |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX D1247H lies within the DAXX-interacting region of the Atrx protein (UniProt.org). D1247H has not been characterized in the scientific literature and therefore, its effect on Atrx protein function is unknown (PubMed, Feb 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATRX mutant ATRX D1247H |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77676296C>G |
| cDNA | c.3739G>C |
| Protein | p.D1247H |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000489.4 | chrX:g.77676296C>G | c.3739G>C | p.D1247H | RefSeq | GRCh38/hg38 |
| XM_017029602.1 | chrX:g.77664729C>G | c.3739G>C | p.D1247H | RefSeq | GRCh38/hg38 |
| XM_006724668.4 | chrX:g.77676296C>G | c.3739G>C | p.D1247H | RefSeq | GRCh38/hg38 |
| XM_017029602 | chrX:g.77664729C>G | c.3739G>C | p.D1247H | RefSeq | GRCh38/hg38 |
| NM_000489 | chrX:g.77676296C>G | c.3739G>C | p.D1247H | RefSeq | GRCh38/hg38 |
| XM_017029607.2 | chrX:g.77663529C>G | c.3739G>C | p.D1247H | RefSeq | GRCh38/hg38 |
| XM_006724668 | chrX:g.77676296C>G | c.3739G>C | p.D1247H | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77676296C>G | c.3739G>C | p.D1247H | RefSeq | GRCh38/hg38 |
| XM_047442191.1 | chrX:g.77676296C>G | c.3739G>C | p.D1247H | RefSeq | GRCh38/hg38 |
| XM_006724668.3 | chrX:g.77676296C>G | c.3739G>C | p.D1247H | RefSeq | GRCh38/hg38 |
| XM_017029607 | chrX:g.77663529C>G | c.3739G>C | p.D1247H | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ATRX D1247H | unknown |