Article

ARID1B damaging variants from more than one million genomes, cause human diseases by impairing protein-protein interactions, stability, and regulation

2026-06-20

Abstract excerpt

ARID1B is the most frequently de novo altered gene across a spectrum of human neurodevelopmental disorders and cancers. We found 1,456 missense variants in ARID1B’s C-terminal domains, 94% of which are clinically uninterpreted and 59% of which are observed in human disorders and cancers. Using integrative modeling of ARID1B cBAF and DNA bound structures, we calculate how these variants impact key functional sites...

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Literature Corpus work: ac7fd704-eb31-5790-a1ce-5714d736118f
DOI: 10.64898/2026.06.19.733400

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