Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.E837*
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PKD2

NM_000297.4:p.E837*

Associated Papers

Polycystin 2: A calcium channel, channel partner, and regulator of calcium homeostasis in ADPKD.

Brill AL et al.

Cellular Signalling, 2020

Structural model of the TRPP2/PKD1 C-terminal coiled-coil complex produced by a combined computational and experimental approach.

Zhu J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Structural biology of TRP channels.

Li M et al.

Advances in Experimental Medicine and Biology, 2011

Transient receptor potential genes and human inherited disease.

Everett KV

Advances in Experimental Medicine and Biology, 2011

Structural and molecular basis of the assembly of the TRPP2/PKD1 complex.

Yu Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2009

Polycystin-2 down-regulates cell proliferation via promoting PERK-dependent phosphorylation of eIF2alpha.

Liang G et al.

Human Molecular Genetics, 2008

Polycystin-2 is regulated by endoplasmic reticulum-associated degradation.

Liang G et al.

Human Molecular Genetics, 2008

Genotype-renal function correlation in type 2 autosomal dominant polycystic kidney disease.

Magistroni R et al.

Journal of the American Society of Nephrology : Jasn, 2003

Mutations of the human polycystic kidney disease 2 (PKD2) gene.

Deltas CC

Human Mutation, 2001

Location of mutations within the PKD2 gene influences clinical outcome.

Hateboer N et al.

Kidney International, 2000

Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.

Wu G et al.

Molecular Genetics and Metabolism, 2000

Seven novel mutations of the PKD2 gene in families with autosomal dominant polycystic kidney disease.

Torra R et al.

Kidney International, 1999

A spectrum of mutations in the polycystic kidney disease-2 (PKD2) gene from eight Canadian kindreds.

Pei Y et al.

Journal of the American Society of Nephrology : Jasn, 1998

Novel stop and frameshifting mutations in the autosomal dominant polycystic kidney disease 2 (PKD2) gene.

Viribay M et al.

Human Genetics, 1997

[Mutational analysis of the PKD1 and PKD2 (type 1 and 2 dominant autosomal polycystic kidney) genes].

Torra R et al.

Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0

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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."