Varaico: Literature-Extracted Genetic Variants

Gene:TRPV4
Variant:p.L618Q
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TRPV4

NM_021625.5:p.L618Q

Associated Papers

Thiemann disease and familial digital arthropathy - brachydactyly: two sides of the same coin?

Damseh N et al.

Orphanet Journal of Rare Diseases, 2019

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

Cryo-EM and X-ray structures of TRPV4 reveal insight into ion permeation and gating mechanisms.

Deng Z et al.

Nature Structural & Molecular Biology, 2018

Human skeletal dysplasia caused by a constitutive activated transient receptor potential vanilloid 4 (TRPV4) cation channel mutation.

Kang SS et al.

Experimental & Molecular Medicine, 2012

TRPV4-mediated channelopathies.

Verma P et al.

Channels (austin, Tex.), 0

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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."