Varaico: Literature-Extracted Genetic Variants

Gene:TRPV4
Variant:p.Y567*
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TRPV4

NM_021625.5:p.Y567*

Associated Papers

Roles for TRPV4 in disease: A discussion of possible mechanisms.

Hernández-Vega AM et al.

Cell Calcium, 2024

TRPing to the Point of Clarity: Understanding the Function of the Complex TRPV4 Ion Channel.

Toft-Bertelsen TL et al.

Cells, 2021

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Gomes CC et al.

Nature Communications, 2018

30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM1_ESM.pdf

A variant by any name: quantifying annotation discordance across tools and clinical databases.

Yen JL et al.

Genome Medicine, 2017

28122645 (PubMed )
Supplement: 13073_2016_396_MOESM1_ESM.xlsx › Table_S1

The puzzle of TRPV4 channelopathies.

Nilius B et al.

Embo Reports, 2013

Comprehensive analysis of the TRPV4 gene in a large series of inherited neuropathies and controls.

Fawcett KA et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2012

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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."