Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.R538W
Back to variants list

COL4A1

NM_001845.6:p.R538W

Associated Papers

Optimizing Next Generation Sequencing for Genetic Diagnosis in Autosomal Dominant Polycystic Kidney Disease.

Ma D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2026

Missense Variants in COL4A1/2 Are Associated with Cerebral Aneurysms: A Case Report and Literature Review.

Uemura M et al.

Neurology International, 2024

38392956 (PubMed )
Supplement: neurolint-16-00015-s001.zip › neurolint-2790730-supplementary.pdf

Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort.

Tomar S et al.

Circulation. Genomic and Precision Medicine, 2022

RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.

Long Q et al.

Frontiers in Genetics, 2022

35846154 (PubMed )
Supplement: Table9.XLSX › GBM

Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD.

Gulati A et al.

Kidney International Reports, 2020

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."