Varaico: Literature-Extracted Genetic Variants

Gene:RIPK4
Variant:p.T184I
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RIPK4

NM_020639.3:p.T184I

Associated Papers

RIPK4-mediated MFN2 degradation drives osteogenesis through mitochondrial fragmentation and restricts myelopoiesis by blocking mitochondrial transfer.

Ding P et al.

Nature Communications, 2025

The RIPK4-IRF6 signalling axis safeguards epidermal differentiation and barrier function.

Oberbeck N et al.

Nature, 2019

Crystal Structure of Ripk4 Reveals Dimerization-Dependent Kinase Activity.

Huang CS et al.

Structure (london, England : 1993), 2018

A novel RIPK4-IRF6 connection is required to prevent epithelial fusions characteristic for popliteal pterygium syndromes.

De Groote P et al.

Cell Death and Differentiation, 2015

Mutations in RIPK4 cause the autosomal-recessive form of popliteal pterygium syndrome.

Kalay E et al.

American Journal of Human Genetics, 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."