Varaico: Literature-Extracted Genetic Variants

Gene:ATP11C
Variant:p.Q79E
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ATP11C

NM_001353812.2:p.Q79E

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

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

39432785 (PubMed )
Supplement: pnas.2415755121.sapp.pdf
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