Varaico: Literature-Extracted Genetic Variants

Gene:RIPK4
Variant:p.K51R
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RIPK4

NM_020639.3:p.K51R

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

A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome.

Dinçer T et al.

American Journal of Medical Genetics. Part A, 2021

Keratin 14 is a novel interaction partner of keratinocyte differentiation regulator: receptor-interacting protein kinase 4.

Sümer C et al.

Turkish Journal of Biology = Turk Biyoloji Dergisi, 2019

RIPK4 activity in keratinocytes is controlled by the SCFβ-TrCP ubiquitin ligase to maintain cortical actin organization.

Tanghe G et al.

Cellular and Molecular Life Sciences : Cmls, 2018

A20 regulates canonical wnt-signaling through an interaction with RIPK4.

Nakamura BN et al.

Plos One, 2018

Substrate-Trapped Interactors of PHD3 and FIH Cluster in Distinct Signaling Pathways.

Rodriguez J et al.

Cell Reports, 2016

Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions.

Kwa MQ et al.

Cellular Signalling, 2015

Receptor-interacting protein kinase 4 and interferon regulatory factor 6 function as a signaling axis to regulate keratinocyte differentiation.

Kwa MQ et al.

The Journal of Biological Chemistry, 2014

The ANKK1 protein associated with addictions has nuclear and cytoplasmic localization and shows a differential response of Ala239Thr to apomorphine.

Garrido E et al.

Neurotoxicity Research, 2011

Protein kinase C-associated kinase is not required for the development of peripheral B lymphocyte populations.

Moran ST et al.

Molecular Immunology, 2006

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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."