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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 | chr1:g.26780157G>A | c.6259G>A | p.G2087R | RefSeq | GRCh38/hg38 |
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 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ARID1A G2087R | loss of function - predicted | EZH2 inhibitor |