Varaico: Literature-Extracted Genetic Variants

Gene:PKD1
Variant:p.R1190C
Back to variants list

PKD1

NM_001009944.3:p.R1190C

Associated Papers

Leveraging genomic biobanks to enhance genetic testing outcomes for kidney disease.

Urban GM et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Large-scale epidemiological study on feline autosomal dominant polycystic kidney disease and identification of novel PKD1 gene variants.

Shitamori F et al.

Journal of Feline Medicine and Surgery, 2023

37489504 (PubMed )
Supplement: sj-xlsx-1-jfm-10.1177_1098612X231185393.xlsx › Supplementary_Table_1

ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.

Seidel P et al.

Jci Insight, 2022

36413415 (PubMed )
Supplement: jciinsight-7-156087-s060.xlsx › 769P
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."