Varaico: Literature-Extracted Genetic Variants

Gene:GRHPR
Variant:p.M322R
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GRHPR

NM_012203.2:p.M322R

Associated Papers

Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.

Mandrile G et al.

Clinical Kidney Journal, 2025

40873808 (PubMed )
Supplement: sfaf194_Supplemental_File.docx

Ethnic differences in GRHPR mutations in patients with primary hyperoxaluria type 2.

Takayama T et al.

Clinical Genetics, 2014

Structural basis of substrate specificity in human glyoxylate reductase/hydroxypyruvate reductase.

Booth MP et al.

Journal of Molecular Biology, 2006

Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2.

Cregeen DP et al.

Human Mutation, 2003

Primary hyperoxaluria type 2 in children.

Johnson SA et al.

Pediatric Nephrology (berlin, Germany), 2002

Identification of missense, nonsense, and deletion mutations in the GRHPR gene in patients with primary hyperoxaluria type II (PH2).

Webster KE et al.

Human Genetics, 2000

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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."