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 | F2113Sfs*9 |
| Impact List | frameshift |
| Protein Effect | unknown |
| Gene Variant Descriptions | ATRX F2113Sfs*9 indicates a shift in the reading frame starting at amino acid 2113 and terminating 9 residues downstream causing a premature truncation of the 2492 amino acid Atrx protein (UniProt.org). F2113Sfs*9 has been identified in the scientific literature (PMID: 21252315, PMID: 39707189, PMID: 37713468), but has not been biochemically characterized and therefore, its effect on Atrx protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ATRX mutant ATRX F2113Sfs*9 |
| Transcript | NM_000489.6 |
| gDNA | chrX:g.77558836_77558839delATAA |
| cDNA | c.6338_6341delTTAT |
| Protein | p.F2113Sfs*9 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000489 | chrX:g.77558836_77558839delATAA | c.6338_6341delTTAT | p.F2113Sfs*9 | RefSeq | GRCh38/hg38 |
| NM_000489.4 | chrX:g.77558836_77558839delATAA | c.6338_6341delTTAT | p.F2113Sfs*9 | RefSeq | GRCh38/hg38 |
| NM_000489.6 | chrX:g.77558836_77558839delATAA | c.6338_6341delTTAT | p.F2113Sfs*9 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|