Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.S812A
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PKD2

NM_000297.4:p.S812A

Associated Papers

Role of PKD2 in the endoplasmic reticulum calcium homeostasis.

Liu X et al.

Frontiers in Physiology, 2022

Phase separation of Polo-like kinase 4 by autoactivation and clustering drives centriole biogenesis.

Park JE et al.

Nature Communications, 2019

31672968 (PubMed )
Supplement: 41467_2019_12619_MOESM1_ESM.pdf

Structure and function of polycystins: insights into polycystic kidney disease.

Douguet D et al.

Nature Reviews. Nephrology, 2019

Vasopressin and disruption of calcium signalling in polycystic kidney disease.

Chebib FT et al.

Nature Reviews. Nephrology, 2015

Hyperphosphorylation of polycystin-2 at a critical residue in disease reveals an essential role for polycystin-1-regulated dephosphorylation.

Streets AJ et al.

Human Molecular Genetics, 2013

Aurora A kinase activity influences calcium signaling in kidney cells.

Plotnikova OV et al.

The Journal of Cell Biology, 2011

Identification of the structural motif responsible for trimeric assembly of the C-terminal regulatory domains of polycystin channels PKD2L1 and PKD2.

Molland KL et al.

The Biochemical Journal, 2010

A polycystin-2 (TRPP2) dimerization domain essential for the function of heteromeric polycystin complexes.

Giamarchi A et al.

The Embo Journal, 2010

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

Bertuccio CA et al.

The Journal of Biological Chemistry, 2009

Function and regulation of TRPP2 at the plasma membrane.

Tsiokas L

American Journal of Physiology. Renal Physiology, 2009

Nek8 regulates the expression and localization of polycystin-1 and polycystin-2.

Sohara E et al.

Journal of the American Society of Nephrology : Jasn, 2008

Cell biology of polycystin-2.

Tsiokas L et al.

Cellular Signalling, 2007

TRP channels in disease.

Jordt SE et al.

Sub-cellular Biochemistry, 2007

Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2.

Li X et al.

Nature Cell Biology, 2005

Polycystins: polymodal receptor/ion-channel cellular sensors.

Delmas P

Pflugers Archiv : European Journal of Physiology, 2005

Cellular and molecular function of mucolipins (TRPML) and polycystin 2 (TRPP2).

Qian F et al.

Pflugers Archiv : European Journal of Physiology, 2005

Trafficking of TRPP2 by PACS proteins represents a novel mechanism of ion channel regulation.

Köttgen M et al.

The Embo Journal, 2005

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."