Varaico: Literature-Extracted Genetic Variants

Gene:ATP11A
Variant:p.E114G
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ATP11A

NM_015205.3:p.E114G

Associated Papers

Cryo-EM structure of the ATP11C Q79E mutant reveals the structural basis for altered Phospholipid recognition.

Qian Y et al.

The Journal of Biological Chemistry, 2026

De novo heterozygous missense variants in ATP11A are associated with refractory focal epilepsy.

Ye ZL et al.

Journal of Medical Genetics, 2025

Substrate specificity controlled by the exit site of human P4-ATPases, revealed by de novo point mutations in neurological disorders.

Calianese DC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

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