Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.L2993P
Back to variants list

PKD1

NM_001009944.3:p.L2993P

Associated Papers

Gαi-mediated TRPC4 activation by polycystin-1 contributes to endothelial function via STAT1 activation.

Kwak M et al.

Scientific Reports, 2018

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications.

Rossetti S et al.

American Journal of Human Genetics, 2001

Novel mutations in the duplicated region of PKD1 gene.

Perrichot R et al.

European Journal of Human Genetics : Ejhg, 2000

Molecular genetics and mechanism of autosomal dominant polycystic kidney disease.

Wu G et al.

Molecular Genetics and Metabolism, 2000

Mutational analysis within the 3' region of the PKD1 gene.

Badenas C et al.

Kidney International, 1999

Identification of mutations in the duplicated region of the polycystic kidney disease 1 gene (PKD1) by a novel approach.

Peral B et al.

American Journal of Human Genetics, 1997

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."