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 | E2000Q |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ARID1A E2000Q lies within the GR binding domain of the Arid1a protein (PMID: 23208470). E2000Q has been identified in sequencing studies (PMID: 26503331, PMID: 37591896), but has not been biochemically characterized and therefore, its effect on Arid1a protein function is unknown (PubMed, Sep 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
ARID1A mutant ARID1A E2000Q |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26779896G>C |
| cDNA | c.5998G>C |
| Protein | p.E2000Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015.5 | chr1:g.26779896G>C | c.5998G>C | p.E2000Q | RefSeq | GRCh38/hg38 |
| NM_006015.6 | chr1:g.26779896G>C | c.5998G>C | p.E2000Q | RefSeq | GRCh38/hg38 |
| NM_006015 | chr1:g.26779896G>C | c.5998G>C | p.E2000Q | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|