Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN3
Variant:p.A419G
Back to variants list

MCOLN3

NM_018298.11:p.A419G

Associated Papers

The TRPML3 channel: from gene to function.

Noben-Trauth K

Advances in Experimental Medicine and Biology, 2011

Properties of the TRPML3 channel pore and its stable expansion by the Varitint-Waddler-causing mutation.

Kim HJ et al.

The Journal of Biological Chemistry, 2010

The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence.

Cuajungco MP et al.

Pflugers Archiv : European Journal of Physiology, 2008

A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype.

Kim HJ et al.

The Embo Journal, 2008

Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype.

Kim HJ et al.

The Journal of Biological Chemistry, 2007

A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse.

Grimm C et al.

Proceedings of the National Academy of Sciences of the United States of America, 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."