Varaico: Literature-Extracted Genetic Variants

Gene:ATP7B
Variant:p.C985S
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ATP7B

NM_000053.4:p.C985S

Associated Papers

Co-evolution of alpha-helical transmembrane protein residues: large-scale variant profiling and complete mutational landscape of 2277 known PDB entries representing 504 unique human protein sequences.

Karagöl T et al.

Journal of Molecular Evolution, 2025

40993375 (PubMed )
Supplement: 239_2025_10262_MOESM2_ESM.xlsx › Sheet1

Functional Screen of Wilson Disease ATP7B Variants Reveals Residual Transport Activities.

Calvo JS et al.

Human Mutation, 2025

40661833 (PubMed )
Supplement: 7485658.f1.pdf
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