Article

Structure-Aware Mapping of Disease-Relevant Missense Variation: A Case Study in Three Nuclear Pore Complex Genes

2025-10-29

Abstract excerpt

Missense variation in the nuclear pore complex (NPC) remains difficult to interpret because sequence change, structural context, and sparse clinical labels all interact in nontrivial ways. We study three functionally distinct nucleoporins GLE1, NUP214 , and NUP62 and build a reproducible pipeline that binds variants to canonical UniProt coordinates, overlays AlphaFold2 per-residue confidence, and assigns domain/...

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Literature Corpus work: fce6a102-add1-5f4f-8995-c56ed0ce5b4c
DOI: 10.1101/2025.10.27.684907

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