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| Gene | ARID1A |
| Variant | D1850Gfs*4 |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | ARID1A D1850Gfs*4 indicates a shift in the reading frame starting at amino acid 1850 and terminating 4 residues downstream causing a premature truncation of the 2285 amino acid Arid1a protein (UniProt.org). D1850Gfs*4 has not been characterized, however, due to the effects of other truncation mutations downstream of D1850 (PMID: 29736026), is predicted to lead to a loss of Arid1a protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
ARID1A mutant ARID1A inact mut ARID1A D1850fs ARID1A D1850Gfs*4 |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26779446dupG |
| cDNA | c.5548dupG |
| Protein | p.D1850Gfs*4 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015 | chr1:g.26779441_26779442insT | c.5543_5544insT | p.D1850Gfs*4 | RefSeq | GRCh38/hg38 |
| NM_006015.6 | chr1:g.26779446dupG | c.5548dupG | p.D1850Gfs*4 | RefSeq | GRCh38/hg38 |
| NM_006015.5 | chr1:g.26779446dupG | c.5548dupG | p.D1850Gfs*4 | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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