Varaico: Literature-Extracted Genetic Variants

Gene:ATP2A1
Variant:p.D351N
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ATP2A1

NM_004320.6:p.D351N

Associated Papers

Bi-allelic loss-of function variants in ATP2A1 cause autosomal recessive Brody disease.

Cao C et al.

Qjm : Monthly Journal of the Association of Physicians, 2025

High-yield heterologous expression of wild type and mutant Ca(2+) ATPase: Characterization of Ca(2+) binding sites by charge transfer.

Liu Y et al.

Journal of Molecular Biology, 2009

Functional and structural roles of critical amino acids within the"N", "P", and "A" domains of the Ca2+ ATPase (SERCA) headpiece.

Ma H et al.

Biochemistry, 2005

Ca2+ occlusion and gating function of Glu309 in the ADP-fluoroaluminate analog of the Ca2+-ATPase phosphoenzyme intermediate.

Inesi G et al.

The Journal of Biological Chemistry, 2004

Substrate-induced conformational fit and headpiece closure in the Ca2+ATPase (SERCA).

Ma H et al.

The Journal of Biological Chemistry, 2003

Detailed characterization of the cooperative mechanism of Ca(2+) binding and catalytic activation in the Ca(2+) transport (SERCA) ATPase.

Zhang Z et al.

Biochemistry, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."