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| Gene | ARID1A |
| Variant | Q268* |
| Impact List | nonsense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | ARID1A Q268* results in a premature truncation of the Arid1a protein at amino acid 268 of 2285 (UniProt.org). Q268* has not been characterized however, due to the effects of other truncation mutations downstream of Q268 (PMID: 26069190, 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 Q268* |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.26697205C>T |
| cDNA | c.802C>T |
| Protein | p.Q268* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015.6 | chr1:g.26697205C>T | c.802C>T | p.Q268* | RefSeq | GRCh38/hg38 |
| NM_139135.4 | chr1:g.26697205C>T | c.802C>T | p.Q268* | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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