Varaico: Literature-Extracted Genetic Variants

Gene:RIPK1
Variant:p.D138N
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RIPK1

NM_001354930.2:p.D138N

Associated Papers

Proteome-Wide Analysis of Functional Phosphosites in the FGFR Family of Proteins: Insights from Large-Scale Phosphoproteomic Analysis.

Palollathil A et al.

Proteomes, 2026

Loss of MLKL impairs abdominal aortic aneurysm development by attenuating smooth muscle cell necroptosis.

Nemade H et al.

Cell Death & Disease, 2026

Repression of RIPK1 kinase by INPP5D inhibits expression of diverse proinflammatory mediators and late-onset Alzheimer's disease risk factors.

Xie X et al.

Immunity, 2026

Independent mechanisms of inflammation and myeloid bias in VEXAS syndrome.

Narendra VK et al.

Nature, 2026

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

ATR-mediated phosphorylation of RIPK1 inhibits DNA damage-induced necroptosis.

Shi SN et al.

Biochemical Pharmacology, 2025

Pyrin inflammasome-driven erosive arthritis caused by unprenylated RHO GTPase signaling.

Akula MK et al.

Embo Molecular Medicine, 2025

RIPK1 S213E mutant suppresses RIPK1-dependent cell death by preventing interactions with RIPK3 and CASP8.

Nan N et al.

Cell Death Discovery, 2025

Raver1 links Ripk1 RNA splicing to caspase-8-mediated pyroptotic cell death, inflammation, and pathogen resistance.

Zhang B et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

39946533 (PubMed )
Supplement: pnas.2420802122.sapp.pdf

TBK1-associated adapters TANK and AZI2 protect mice against TNF-induced cell death and severe autoinflammatory diseases.

Ujevic A et al.

Nature Communications, 2024

N4BP1 coordinates ubiquitin-dependent crosstalk within the IκB kinase family to limit Toll-like receptor signaling and inflammation.

Gitlin AD et al.

Immunity, 2024

Defective prelamin A processing promotes unconventional necroptosis driven by nuclear RIPK1.

Yang Y et al.

Nature Cell Biology, 2024

RIPK1 activation in Mecp2-deficient microglia promotes inflammation and glutamate release in RTT.

Cao Z et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

cIAPs control RIPK1 kinase activity-dependent and -independent cell death and tissue inflammation.

Schorn F et al.

The Embo Journal, 2023

UDP-glucuronate metabolism controls RIPK1-driven liver damage in nonalcoholic steatohepatitis.

Zhang T et al.

Nature Communications, 2023

RIPK1 blocks T cell senescence mediated by RIPK3 and caspase-8.

Imanishi T et al.

Science Advances, 2023

PRMT5-mediated regulatory arginine methylation of RIPK3.

Chauhan C et al.

Cell Death Discovery, 2023

36658119 (PubMed )
Supplement: 41420_2023_1299_MOESM1_ESM.pdf

Autoimmune and autoinflammatory manifestations in inborn errors of immunity.

Kačar M et al.

Current Opinion in Allergy and Clinical Immunology, 2022

Ubiquitin-binding domain in ABIN1 is critical for regulating cell death and inflammation during development.

Li M et al.

Cell Death and Differentiation, 2022

Caspase-8 Blocks Receptor-Interacting Protein Kinase-1 Kinase-Independent Necroptosis during Embryogenesis.

Zhang H et al.

Immunohorizons, 2022

TAB2 deficiency induces dilated cardiomyopathy by promoting RIPK1-dependent apoptosis and necroptosis.

Yin H et al.

The Journal of Clinical Investigation, 2022

Expression of Ripk1 and DAM genes correlates with severity and progression of Krabbe disease.

Cachón-González MB et al.

Human Molecular Genetics, 2021

OTULIN maintains skin homeostasis by controlling keratinocyte death and stem cell identity.

Hoste E et al.

Nature Communications, 2021

OTULIN inhibits RIPK1-mediated keratinocyte necroptosis to prevent skin inflammation in mice.

Schünke H et al.

Nature Communications, 2021

NEK1-mediated retromer trafficking promotes blood-brain barrier integrity by regulating glucose metabolism and RIPK1 activation.

Wang H et al.

Nature Communications, 2021

Genetic inactivation of RIP1 kinase does not ameliorate disease in a mouse model of ALS.

Dominguez S et al.

Cell Death and Differentiation, 2021

RIPK1-Associated Inborn Errors of Innate Immunity.

Zhang J et al.

Frontiers in Immunology, 2021

Reduction of mNAT1/hNAT2 Contributes to Cerebral Endothelial Necroptosis and Aβ Accumulation in Alzheimer's Disease.

Zou C et al.

Cell Reports, 2020

OTULIN Prevents Liver Inflammation and Hepatocellular Carcinoma by Inhibiting FADD- and RIPK1 Kinase-Mediated Hepatocyte Apoptosis.

Verboom L et al.

Cell Reports, 2020

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.

Tao P et al.

Nature, 2020

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease.

Lalaoui N et al.

Nature, 2020

A20 protects cells from TNF-induced apoptosis through linear ubiquitin-dependent and -independent mechanisms.

Priem D et al.

Cell Death & Disease, 2019

ABIN-1 heterozygosity sensitizes to innate immune response in both RIPK1-dependent and RIPK1-independent manner.

Su Z et al.

Cell Death and Differentiation, 2019

A20 prevents inflammasome-dependent arthritis by inhibiting macrophage necroptosis through its ZnF7 ubiquitin-binding domain.

Polykratis A et al.

Nature Cell Biology, 2019

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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."