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|Protein Effect||loss of function - predicted|
|Gene Variant Descriptions||ARID1A G1848fs results in a change in the amino acid sequence of the Arid1a protein beginning at aa 1848 of 2285, likely resulting in premature truncation of the functional protein (UniProt.org). G1848fs is associated with loss of Arid1a protein expression in a cell line in culture (PMID: 27486766), and due to the effects of other truncation mutations downstream of G1848 (PMID: 29736026), G1848fs is predicted to lead to a loss of Arid1a protein function.|
|Associated Drug Resistance|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|