Varaico: Literature-Extracted Genetic Variants

Gene:TRPM6
Variant:p.P1017R
Back to variants list

TRPM6

NM_017662.5:p.P1017R

Associated Papers

Case Report: Novel TRPM6 Mutations Cause Hereditary Hypomagnesemia With Secondary Hypocalcemia in a Chinese Family and a Literature Review.

Han Y et al.

Frontiers in Pediatrics, 2022

Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia.

Willows J et al.

F1000research, 2019

TRPM6.

Chubanov V et al.

Handbook of Experimental Pharmacology, 2014

Transient receptor potential melastatin 6 knockout mice are lethal whereas heterozygous deletion results in mild hypomagnesemia.

Woudenberg-Vrenken TE et al.

Nephron. Physiology, 2011

Transient receptor potential genes and human inherited disease.

Everett KV

Advances in Experimental Medicine and Biology, 2011

Renal TRPathies.

Dietrich A et al.

Journal of the American Society of Nephrology : Jasn, 2010

The role of transient receptor potential channels in kidney disease.

Woudenberg-Vrenken TE et al.

Nature Reviews. Nephrology, 2009

TRPM6 and TRPM7--Gatekeepers of human magnesium metabolism.

Schlingmann KP et al.

Biochimica Et Biophysica Acta, 2007

Hypomagnesemia with secondary hypocalcemia due to a missense mutation in the putative pore-forming region of TRPM6.

Chubanov V et al.

The Journal of Biological Chemistry, 2007

TRPM6: A Janus-like protein.

Bödding M

Handbook of Experimental Pharmacology, 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."