Varaico: Literature-Extracted Genetic Variants

Gene:GLIS2
Variant:p.R219Splc
Back to variants list

GLIS2

NM_032575.3:p.R219Splc

Associated Papers

The nephronophthisis protein GLIS2/NPHP7 is required for the DNA damage response in kidney tubular epithelial cells.

Ebert LK et al.

American Journal of Physiology. Renal Physiology, 2025

GLIS1-3 transcription factors: critical roles in the regulation of multiple physiological processes and diseases.

Jetten AM

Cellular and Molecular Life Sciences : Cmls, 2018

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis.

Attanasio M et al.

Nature Genetics, 2007

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."