Varaico: Literature-Extracted Genetic Variants

Gene:RIPK1
Variant:p.D324Y
Back to variants list

RIPK1

NM_001354930.2:p.D324Y

Associated Papers

Innate immune inflammatory cell death: PANoptosis and PANoptosomes in host defense and disease.

Chen W et al.

European Journal of Immunology, 2023

Characterization of Novel Pathogenic Variants Leading to Caspase-8 Cleavage-Resistant RIPK1-Induced Autoinflammatory Syndrome.

Tapiz I Reula AJ et al.

Journal of Clinical Immunology, 2022

Infection and autoinflammation in inborn errors of immunity: brothers in arms.

Delafontaine S et al.

Current Opinion in Immunology, 2021

Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Aksentijevich I et al.

Nature Reviews. Rheumatology, 2021

RIPK1-Associated Inborn Errors of Innate Immunity.

Zhang J et al.

Frontiers in Immunology, 2021

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.

Lalaoui N et al.

Nature, 2020

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."