Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.T721A
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PKD2

NM_000297.4:p.T721A

Associated Papers

Molecular dysregulation of ciliary polycystin-2 channels caused by variants in the TOP domain.

Vien TN et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

Polycystin-2 induces a conformational change in polycystin-1.

Oatley P et al.

Biochemistry, 2013

Polycystin-1 C-terminal cleavage is modulated by polycystin-2 expression.

Bertuccio CA et al.

The Journal of Biological Chemistry, 2009

Calcium dependence of polycystin-2 channel activity is modulated by phosphorylation at Ser812.

Cai Y et al.

The Journal of Biological Chemistry, 2004

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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."