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| Gene | ARID1A |
| Variant | I908fs |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | ARID1A I908fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 908 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). I908fs results in a loss of Arid1a protein expression in a patient sample (PMID: 32868822), but has not been fully biochemically characterized, however, due to the effects of other truncation mutations downstream of I908 (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 I908fs |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.(26763274_26763275) |
| cDNA | c.(2722_2721) |
| Protein | p.I908fs |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015.5 | chr1:g.(26763274_26763275) | c.(2722_2721) | p.I908fs | RefSeq | GRCh38/hg38 |
| NM_006015.6 | chr1:g.(26763274_26763275) | c.(2722_2721) | p.I908fs | RefSeq | GRCh38/hg38 |
| NM_139135.4 | chr1:g.(26763274_26763275) | c.(2722_2721) | p.I908fs | RefSeq | GRCh38/hg38 |
| NM_139135.3 | chr1:g.(26763274_26763275) | c.(2722_2721) | p.I908fs | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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