Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.R276G
Back to variants list

HNF1B

NM_000458.4:p.R276G

Associated Papers

MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

Fontana P et al.

Genes, 2025

Calcineurin Inhibitors Downregulate HNF-1β and May Affect the Outcome of HNF1B Patients After Renal Transplantation.

Faguer S et al.

Transplantation, 2016

Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.

Ferrè S et al.

Journal of the American Society of Nephrology : Jasn, 2014

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.

Faguer S et al.

Kidney International, 2011

A genetic syndrome of chronic renal failure with multiple renal cysts and early onset diabetes.

Thomas CP et al.

Kidney International, 2008

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."