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 | D2086N |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ARID1A D2086N lies within an LXXLL motif of the Arid1a protein (UniProt.org). D2086N has been identified in sequencing studies (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Apr 2026). |
| Associated Drug Resistance | |
| Category Variants Paths |
ARID1A mutant ARID1A D2086N |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26780154G>A |
| cDNA | c.6256G>A |
| Protein | p.D2086N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015.5 | chr1:g.26780154G>A | c.6256G>A | p.D2086N | RefSeq | GRCh38/hg38 |
| NM_006015.6 | chr1:g.26780154G>A | c.6256G>A | p.D2086N | RefSeq | GRCh38/hg38 |
| NM_006015 | chr1:g.26780154G>A | c.6256G>A | p.D2086N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|