Varaico: Literature-Extracted Genetic Variants

Gene:GLIS2
Variant:p.C175R
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GLIS2

NM_032575.3:p.C175R

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

Case Report: A Novel In-Frame Deletion of GLIS2 Leading to Nephronophthisis and Early Onset Kidney Failure.

Al Alawi I et al.

Frontiers in Genetics, 2021

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

Jetten AM

Cellular and Molecular Life Sciences : Cmls, 2018

The C175R mutation alters nuclear localization and transcriptional activity of the nephronophthisis NPHP7 gene product.

Ramachandran H et al.

European Journal of Human Genetics : Ejhg, 2016

Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.

Halbritter J et al.

Human Genetics, 2013

A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish.

Kim YH et al.

Plos One, 2013

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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."