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 | ARID1A |
| Variant | S2256* |
| Impact List | nonsense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ARID1A S2256* results in a premature truncation of the Arid1a protein at amino acid 2256 of 2285 (UniProt.org). S2256* has been identified in the scientific literature (PMID: 38833522), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Aug 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ARID1A mutant ARID1A S2256* |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26780665C>A |
| cDNA | c.6767C>A |
| Protein | p.S2256* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015.6 | chr1:g.26780665C>A | c.6767C>A | p.S2256* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| ARID1A S2256* | unknown |