ARID1B is a SWI/SNF subunit frequently mutated in human Coffin-Siris syndrome (CSS) and it is necessary for proliferation of ARID1A mutant cancers. While most CSS ARID1B aberrations introduce frameshifts or stop codons, the functional consequence of missense mutations found in ARID1B is unclear. We here perform saturated mutagenesis screens on ARID1B and demonstrate that protein destabilization is the main mechanism associated with pathogenic missense mutations in patients with Coffin-Siris Syndrome.
No clinical trial protocols linked to this paper
Clinical trials are automatically linked when NCT numbers are found in the paper's title or abstract.PICO Elements
No PICO elements extracted yet. Click "Extract PICO" to analyze this paper.
Paper Details
MeSH Terms
Associated Data
No associated datasets or code repositories found for this paper.
Related Papers
Related paper suggestions will be available in future updates.