Varaico: Literature-Extracted Genetic Variants

Gene:TRPM6
Variant:p.S590*
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TRPM6

NM_017662.5:p.S590*

Associated Papers

New TRPM6 mutation and management of hypomagnesaemia with secondary hypocalcaemia.

Katayama K et al.

Brain & Development, 2015

Kinase and channel activity of TRPM6 are co-ordinated by a dimerization motif and pocket interaction.

van der Wijst J et al.

The Biochemical Journal, 2014

Novel TRPM6 mutations in familial hypomagnesemia with secondary hypocalcemia.

Zhao Z et al.

American Journal of Nephrology, 2013

Transient receptor potential genes and human inherited disease.

Everett KV

Advances in Experimental Medicine and Biology, 2011

TRPM6 and TRPM7--Gatekeepers of human magnesium metabolism.

Schlingmann KP et al.

Biochimica Et Biophysica Acta, 2007

Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.

Schlingmann KP et al.

Journal of the American Society of Nephrology : Jasn, 2005

A critical role of TRPM channel-kinase for human magnesium transport.

Schlingmann KP et al.

The Journal of Physiology, 2005

TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption.

Voets T et al.

The Journal of Biological Chemistry, 2004

Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.

Schlingmann KP et al.

Nature Genetics, 2002

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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."