Varaico: Literature-Extracted Genetic Variants

Gene:MCOLN3
Variant:p.I362T
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MCOLN3

NM_018298.11:p.I362T

Associated Papers

Physiological functions and pharmacological targeting of transient receptor potential channels.

Chubanov V et al.

Pharmacological Reviews, 2025

Cryo-EM structures of the human endolysosomal TRPML3 channel in three distinct states.

Zhou X et al.

Nature Structural & Molecular Biology, 2017

The mucolipin-2 (TRPML2) ion channel: a tissue-specific protein crucial to normal cell function.

Cuajungco MP et al.

Pflugers Archiv : European Journal of Physiology, 2016

TRPML3.

Grimm C et al.

Handbook of Experimental Pharmacology, 2014

Role of TRPML and two-pore channels in endolysosomal cation homeostasis.

Grimm C et al.

The Journal of Pharmacology and Experimental Therapeutics, 2012

Constitutive activity of TRPML2 and TRPML3 channels versus activation by low extracellular sodium and small molecules.

Grimm C et al.

The Journal of Biological Chemistry, 2012

The TRPML3 channel: from gene to function.

Noben-Trauth K

Advances in Experimental Medicine and Biology, 2011

Constitutive activity of the human TRPML2 channel induces cell degeneration.

Lev S et al.

The Journal of Biological Chemistry, 2010

The calcium channel mucolipin-3 is a novel regulator of trafficking along the endosomal pathway.

Martina JA et al.

Traffic (copenhagen, Denmark), 2009

Life and death of sensory hair cells expressing constitutively active TRPML3.

Grimm C et al.

The Journal of Biological Chemistry, 2009

TRPML3 mutations cause impaired mechano-electrical transduction and depolarization by an inward-rectifier cation current in auditory hair cells of varitint-waddler mice.

van Aken AF et al.

The Journal of Physiology, 2008

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

The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration.

Nagata K et al.

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

Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice.

Xu H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2007

TRPML3 and hearing loss in the varitint-waddler mouse.

Atiba-Davies M et al.

Biochimica Et Biophysica Acta, 2007

Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice.

Di Palma F et al.

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