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ARID1A G2087R - Gene Variant Detail

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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

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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

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References