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 | G2087R |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | ARID1A G2087R lies within an LXXLL motif of the Arid1a protein (UniProt.org). G2087R in the context of an Arid1a C-terminal domain construct demonstrates similar binding to Smarca4, Smarcc1 and Smarcd1 as compared to wild-type, but results in increased poly-ubiquitination and reduced protein stability (PMID: 30343899), and therefore, is predicted to lead to a loss of Arid1a protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A G2087R |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26780157G>A |
| cDNA | c.6259G>A |
| Protein | p.G2087R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015.6 | chr1:g.26780157G>A | c.6259G>A | p.G2087R | RefSeq | GRCh38/hg38 |
| NM_006015.5 | chr1:g.26780157G>A | c.6259G>A | p.G2087R | RefSeq | GRCh38/hg38 |
| NM_006015 | chr1:g.26780157G>A | c.6259G>A | p.G2087R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|