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| Gene | ARID1A |
| Variant | Y1324* |
| Impact List | nonsense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | ARID1A Y1324* results in a premature truncation of the Arid1a protein at amino acid 1324 of 2285 (UniProt.org). Y1324* confers a loss of function to Arid1a as demonstrated by decreased binding with Baf subunits, decreased inhibition of proliferation, and failure to induce senescence in culture (PMID: 34386776). |
| Associated Drug Resistance | |
| Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A Y1324* |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26773685C>A |
| cDNA | c.3972C>A |
| Protein | p.Y1324* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015.6 | chr1:g.26773685C>A | c.3972C>A | p.Y1324* | RefSeq | GRCh38/hg38 |
| NM_139135.4 | chr1:g.26773685C>A | c.3972C>A | p.Y1324* | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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