Varaico: Literature-Extracted Genetic Variants

Gene:PKD2
Variant:p.Y836*
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PKD2

NM_000297.4:p.Y836*

Associated Papers

Results of Multigene Panel Testing, Including PKD1, in >1,200 Patients With Cystic Kidney Disease: A Retrospective Analysis.

Tapper EE et al.

Kidney Medicine, 2026

41509997 (PubMed )
Supplement: mmc1.xlsx › Table_S3-_Positive_SNV___indel

Genetic Testing in Adults over 50 Years with Chronic Kidney Disease: Diagnostic Yield and Clinical Implications in a Specialized Kidney Genetics Clinic.

Schott C et al.

Genes, 2025

40282368 (PubMed )
Supplement: genes-16-00408-s001.zip › genes-3515821-supplementary.pdf

PKD1 Mutation Is a Biomarker for Autosomal Dominant Polycystic Kidney Disease.

Kimura T et al.

Biomolecules, 2023

37509056 (PubMed )
Supplement: biomolecules-13-01020-s001.zip › biomolecules-2403734-supplementary_correct.xlsx › Table_S1

Prediction of Renal Prognosis in Patients with Autosomal Dominant Polycystic Kidney Disease Using PKD1/PKD2 Mutations.

Kataoka H et al.

Journal of Clinical Medicine, 2020

31948117 (PubMed )
Supplement: jcm-09-00146-s001.pdf

Technical Evaluation: Identification of Pathogenic Mutations in PKD1 and PKD2 in Patients with Autosomal Dominant Polycystic Kidney Disease by Next-Generation Sequencing and Use of a Comprehensive New Classification System.

Kinoshita M et al.

Plos One, 2016

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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."