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| Gene | ARID1A |
| Variant | G108fs |
| Impact List | frameshift |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | ARID1A G108fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 108 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G108fs 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 G108 (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 G108fs |
| Transcript | NM_006015.6 |
| gDNA | chr1:g.(26696724_26696725) |
| cDNA | c.(322_321) |
| Protein | p.G108fs |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006015.6 | chr1:g.(26696724_26696725) | c.(322_321) | p.G108fs | RefSeq | GRCh38/hg38 |
| NM_139135.4 | chr1:g.(26696724_26696725) | c.(322_321) | p.G108fs | RefSeq | GRCh38/hg38 |
| NM_006015.5 | chr1:g.(26696724_26696725) | c.(322_321) | p.G108fs | RefSeq | GRCh38/hg38 |
| NM_139135.3 | chr1:g.(26696724_26696725) | c.(322_321) | p.G108fs | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|